A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv708619



Internal ID15655889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1689422..1774697hg38UCSC Ensembl
Innerchr1:1620861..1706136hg19UCSC Ensembl
Innerchr1:1610720..1695996hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3885276
hg1985276
hg1885277
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545030
Supporting Variants
Samples
Known GenesCDK11A, CDK11B, MMP23A, NADK, SLC35E2, SLC35E2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv708619
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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