A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3577288



Internal ID18528883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70849342..71049568hg38UCSC Ensembl
Innerchr2:71076472..71276698hg19UCSC Ensembl
Innerchr2:70929980..71130206hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38200227
hg19200227
hg18200227
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013232
Supporting Variants
Samples
Known GenesANKRD53, ATP6V1B1, OR7E91P, TEX261, VAX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3577288
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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