A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv549488

Internal ID

15990211

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:243619693..243620246	hg38	UCSC Ensembl
Inner	chr1:243782995..243783548	hg19	UCSC Ensembl
Inner	chr1:241849618..241850171	hg18	UCSC Ensembl

Cytoband

1q44

Allele length

Assembly	Allele length
hg38	554
hg19	554
hg18	554

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv739392, nssv739385, nssv739347, nssv739320, nssv739389, nssv739368, nssv739335, nssv739308, nssv739402, nssv739407, nssv739307, nssv739374, nssv739352, nssv739401, nssv739299, nssv739413, nssv739331, nssv739305, nssv739378, nssv739336, nssv739300, nssv739371, nssv739321, nssv739370, nssv739293, nssv739333, nssv739327, nssv739394, nssv739350, nssv739355, nssv739314, nssv739376, nssv739302, nssv739399, nssv739406, nssv739372, nssv739349, nssv739343, nssv739339, nssv739338, nssv739411, nssv739341, nssv739375, nssv739309, nssv739345, nssv739403, nssv739297, nssv739353, nssv739348, nssv739380, nssv739410, nssv739326, nssv739393, nssv739391, nssv739337, nssv739294, nssv739386, nssv739377, nssv739323, nssv739381, nssv739382, nssv739322, nssv739346, nssv739303, nssv739319, nssv739351, nssv739330, nssv739310, nssv739360, nssv739295, nssv739396, nssv739359, nssv739301, nssv739356, nssv739332, nssv739312, nssv739397, nssv739324, nssv739334, nssv739357, nssv739408, nssv739373, nssv739304, nssv739318, nssv739328, nssv739344, nssv739365, nssv739388, nssv739369, nssv739292, nssv739329, nssv739316, nssv739362, nssv739364, nssv739379, nssv739313, nssv739400, nssv739342, nssv739361, nssv739315, nssv739354, nssv739325, nssv739387, nssv739404, nssv739358, nssv739390, nssv739311, nssv739298, nssv739296, nssv739366, nssv739409, nssv739317, nssv739363, nssv739340, nssv739383, nssv739306, nssv739405, nssv739412, nssv739367, nssv739398, nssv739395, nssv739384

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	122
Observed Complex	0
Frequency	n/a