A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545001



Internal ID16332410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1440767..1496418hg38UCSC Ensembl
Innerchr1:1376147..1431798hg19UCSC Ensembl
Innerchr1:1366010..1421661hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3855652
hg1955652
hg1855652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708585
Samples
Known GenesATAD3B, ATAD3C, VWA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545001
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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