A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1060680

Internal ID

19149899

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:35232188..35522700	hg38	UCSC Ensembl
Inner	chr16:34466559..34757071	hg19	UCSC Ensembl
Inner	chr16:34324060..34614572	hg18	UCSC Ensembl

Cytoband

16p11.1

Allele length

Assembly	Allele length
hg38	290513
hg19	290513
hg18	290513

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3722316, nssv3558157, nssv3558176, nssv3556281, nssv3556282, nssv3722330, nssv3558174, nssv3558259, nssv3556360, nssv3558185, nssv3556383, nssv3722308, nssv3558246, nssv3556380, nssv3558153, nssv3722410, nssv3722325, nssv3558264, nssv3558239, nssv3558208, nssv3722399, nssv3558160, nssv3558250, nssv3558267, nssv3722372, nssv3558169, nssv3556344, nssv3556377, nssv3722401, nssv3558214, nssv3556359, nssv3556349, nssv3558192, nssv3722355, nssv3558180, nssv3722364, nssv3556341, nssv3558223, nssv3722404, nssv3556263, nssv3722359, nssv3722327, nssv3722360, nssv3556289, nssv3558147, nssv3722377, nssv3556268, nssv3558189, nssv3722424, nssv3722407, nssv3722319, nssv3556274, nssv3722350, nssv3722334, nssv3722415, nssv3558183, nssv3558139, nssv3722419, nssv3558276, nssv3722310, nssv3556299, nssv3722338, nssv3556345, nssv3556326, nssv3556315, nssv3558233, nssv3558273, nssv3558150, nssv3556334, nssv3556303, nssv3722329, nssv3558205, nssv3558165, nssv3722420, nssv3556385, nssv3556335, nssv3722307, nssv3722411, nssv3558155, nssv3722433, nssv3558166, nssv3556291, nssv3558227, nssv3556354, nssv3722353, nssv3722356, nssv3722318, nssv3558172, nssv3556337, nssv3722321, nssv3558261, nssv3722374, nssv3558253, nssv3556297, nssv3722398, nssv3556324, nssv3558236, nssv3558228, nssv3556316, nssv3558161, nssv3722378, nssv3556319, nssv3556353, nssv3722358, nssv3722314, nssv3722383, nssv3558149, nssv3556284, nssv3558141, nssv3556331, nssv3722333, nssv3558202, nssv3722322, nssv3558220, nssv3556367, nssv3556322, nssv3558238, nssv3558210, nssv3556320, nssv3556325, nssv3556278, nssv3556273, nssv3556287, nssv3558209, nssv3722361, nssv3722365, nssv3722313, nssv3556338, nssv3556267, nssv3558234, nssv3556309, nssv3558197, nssv3556298, nssv3722384, nssv3556310, nssv3722339, nssv3558184, nssv3558190, nssv3558177, nssv3556323, nssv3722403, nssv3722435, nssv3722328, nssv3556386, nssv3558212, nssv3556343, nssv3556308, nssv3556333, nssv3722431, nssv3558213, nssv3722422, nssv3558182, nssv3556378, nssv3722395, nssv3556346, nssv3722390, nssv3558247, nssv3558199, nssv3558187, nssv3722343, nssv3722379, nssv3556376, nssv3556347, nssv3556314, nssv3558243, nssv3558241, nssv3558152, nssv3558181, nssv3556356, nssv3558207, nssv3722346, nssv3556275, nssv3556294, nssv3722340, nssv3722375, nssv3558151, nssv3556375, nssv3558263, nssv3556374, nssv3556373, nssv3558242, nssv3722311, nssv3558219, nssv3558167, nssv3556370, nssv3558201, nssv3556330, nssv3722369, nssv3556295, nssv3722368, nssv3722336, nssv3556391, nssv3558254, nssv3558230, nssv3556379, nssv3558144, nssv3558145, nssv3722396, nssv3556328, nssv3558198, nssv3722312, nssv3558140, nssv3558148, nssv3722428, nssv3558216, nssv3556296, nssv3558156, nssv3556351, nssv3556317, nssv3558270, nssv3558266, nssv3558224, nssv3722352, nssv3556389, nssv3722337, nssv3558235, nssv3558138, nssv3722429, nssv3558226, nssv3722357, nssv3556369, nssv3556364, nssv3558142, nssv3722324, nssv3558168, nssv3558164, nssv3556292, nssv3722344, nssv3558265, nssv3722418, nssv3556366, nssv3556288, nssv3722421, nssv3558229, nssv3556312, nssv3722405, nssv3556340, nssv3556365, nssv3722370, nssv3722391, nssv3722373, nssv3556321, nssv3556311, nssv3556276, nssv3722416, nssv3558256, nssv3556358, nssv3722426, nssv3558268, nssv3558257, nssv3558200, nssv3722432, nssv3722381, nssv3722437, nssv3722393, nssv3722371, nssv3558218, nssv3556339, nssv3556318, nssv3556300, nssv3556277, nssv3722363, nssv3556348, nssv3722434, nssv3556293, nssv3556362, nssv3556332, nssv3722335, nssv3556361, nssv3558244, nssv3722417, nssv3722387, nssv3556262, nssv3558146, nssv3558186, nssv3556272, nssv3558175, nssv3558163, nssv3558274, nssv3556264, nssv3722423, nssv3558211, nssv3556381, nssv3722425, nssv3558215, nssv3722397, nssv3722382, nssv3556301, nssv3556371, nssv3558221, nssv3558195, nssv3556329, nssv3722430, nssv3558179, nssv3558173, nssv3722348, nssv3556327, nssv3558171, nssv3722362, nssv3556270, nssv3558203, nssv3556355, nssv3556390, nssv3722354, nssv3722349, nssv3558260, nssv3722389, nssv3558217, nssv3558162, nssv3556352, nssv3722380, nssv3558240, nssv3558158, nssv3722367, nssv3556271, nssv3722392, nssv3722408, nssv3558232, nssv3722406, nssv3722366, nssv3558154, nssv3558206, nssv3558194, nssv3558225, nssv3556269, nssv3722412, nssv3556384, nssv3556306, nssv3722413, nssv3558271, nssv3558248, nssv3722427, nssv3722414, nssv3722347, nssv3558222, nssv3556368, nssv3722342, nssv3722409, nssv3722345, nssv3556342, nssv3556357, nssv3722323, nssv3558204, nssv3722341, nssv3558159, nssv3556304, nssv3558272, nssv3722388, nssv3722320, nssv3556307, nssv3556285, nssv3722331, nssv3558255, nssv3556336, nssv3556305, nssv3722400, nssv3722309, nssv3558275, nssv3722386, nssv3722326, nssv3558245, nssv3558143, nssv3556372, nssv3722402, nssv3556290, nssv3722376, nssv3722315, nssv3556388, nssv3558178, nssv3722394, nssv3558196, nssv3558249, nssv3722332, nssv3558277, nssv3556382, nssv3558231, nssv3722385, nssv3558191, nssv3556313, nssv3556266, nssv3722351, nssv3558269, nssv3556286, nssv3558258, nssv3556302, nssv3558251, nssv3556363, nssv3558188, nssv3558252, nssv3556350, nssv3722436, nssv3722317, nssv3556265, nssv3558237, nssv3556387, nssv3558170, nssv3556280, nssv3558262, nssv3558193, nssv3556283, nssv3556279

Samples

Known Genes

LOC100130700, LOC146481, LOC283914

Method

SNP array

Analysis

Affymetrix SNP array copy number analysis

Platform

Affymetrix SNP Array 6.0

Comments

Reference

Coe_et_al_2014

Pubmed ID

Accession Number(s)

Frequency

Sample Size	11257
Observed Gain	401
Observed Loss	0
Observed Complex	0
Frequency	n/a