A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3577289



Internal ID18528884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70881638..70962921hg38UCSC Ensembl
Innerchr2:71108768..71190051hg19UCSC Ensembl
Innerchr2:70962276..71043559hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3881284
hg1981284
hg1881284
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014516
Supporting Variants
Samples
Known GenesATP6V1B1, VAX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3577289
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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