A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv546330

Internal ID

15987053

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:59583022..59584019	hg38	UCSC Ensembl
Inner	chr1:60048694..60049691	hg19	UCSC Ensembl
Inner	chr1:59821282..59822279	hg18	UCSC Ensembl

Cytoband

1p32.1

Allele length

Assembly	Allele length
hg38	998
hg19	998
hg18	998

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv715316, nssv715390, nssv715333, nssv715355, nssv715346, nssv715338, nssv715334, nssv715407, nssv715394, nssv715404, nssv715383, nssv715314, nssv715328, nssv715368, nssv715351, nssv715362, nssv715332, nssv715393, nssv715402, nssv715377, nssv715379, nssv715397, nssv715365, nssv715385, nssv715359, nssv715391, nssv715353, nssv715324, nssv715396, nssv715343, nssv715329, nssv715401, nssv715392, nssv715318, nssv715345, nssv715408, nssv715327, nssv715388, nssv715341, nssv715342, nssv715323, nssv715403, nssv715406, nssv715364, nssv715321, nssv715378, nssv715361, nssv715317, nssv715315, nssv715395, nssv715349, nssv715389, nssv715357, nssv715384, nssv715330, nssv715326, nssv715373, nssv715348, nssv715344, nssv715335, nssv715405, nssv715380, nssv715354, nssv715320, nssv715381, nssv715331, nssv715400, nssv715356, nssv715352, nssv715340, nssv715387, nssv715398, nssv715375, nssv715339, nssv715337, nssv715367, nssv715376, nssv715386, nssv715382, nssv715372, nssv715399, nssv715358, nssv715369, nssv715336, nssv715374, nssv715371, nssv715366, nssv715322, nssv715363, nssv715325, nssv715350, nssv715319, nssv715347, nssv715360, nssv715370

Samples

Known Genes

Method

SNP array

Analysis

Illumina SNP array copy number analysis

Platform

Not reported

Comments

Reference

Cooper_et_al_2011

Pubmed ID

Accession Number(s)

Frequency

Sample Size	17421
Observed Gain	0
Observed Loss	95
Observed Complex	0
Frequency	n/a