A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998678



Internal ID18811528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21564750..21614530hg38UCSC Ensembl
Innerchr1:21891243..21941023hg19UCSC Ensembl
Innerchr1:21763830..21813610hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3849781
hg1949781
hg1849781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3479306
Samples
Known GenesALPL, RAP1GAP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998678
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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