A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1172594



Internal ID15507678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:4677471..4693997hg38UCSC Ensembl
Innerchr1:4737531..4754057hg19UCSC Ensembl
Innerchr1:4637391..4653917hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3816527
hg1916527
hg1816527
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545159
Supporting Variants
Samples1780862093_A
Known GenesAJAP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1172594
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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