A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545282



Internal ID16332691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6962639..6963434hg38UCSC Ensembl
Innerchr1:7022699..7023494hg19UCSC Ensembl
Innerchr1:6945286..6946081hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38796
hg19796
hg18796
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv85n54
Supporting Variantsnssv709387, nssv709399, nssv709383, nssv709362, nssv709394, nssv709361, nssv709419, nssv709416, nssv709393, nssv709414, nssv709374, nssv709408, nssv709386, nssv709405, nssv709372, nssv709365, nssv709411, nssv709371, nssv709376, nssv709421, nssv709385, nssv709424, nssv709352, nssv709401, nssv709413, nssv709353, nssv709388, nssv709349, nssv709406, nssv709391, nssv709398, nssv709378, nssv709404, nssv709373, nssv709397, nssv709346, nssv709370, nssv709354, nssv709359, nssv709423, nssv709410, nssv709381, nssv709377, nssv709375, nssv709392, nssv709357, nssv709367, nssv709396, nssv709403, nssv709417, nssv709356, nssv709402, nssv709384, nssv709369, nssv709412, nssv709382, nssv709368, nssv709409, nssv709363, nssv709351, nssv709390, nssv709364, nssv709348, nssv709379, nssv709420, nssv709358, nssv709347, nssv709415, nssv709395, nssv709360, nssv709400, nssv709418, nssv709425, nssv709422, nssv709355, nssv709366, nssv709350, nssv709389, nssv709380, nssv709407
Samples
Known GenesCAMTA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545282
Frequency
Sample Size17421
Observed Gain72
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer