A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014516



Internal ID18757050
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 StatusM
Merged Variants
Supporting Variantsnssv3577289
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)nsv1014516
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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