A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013903



Internal ID18756435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74729834..74952544hg38UCSC Ensembl
Innerchr2:74956961..75179671hg19UCSC Ensembl
Innerchr2:74810469..75033179hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38222711
hg19222711
hg18222711
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3871n100
Supporting Variantsnssv3581994, nssv3581993
Samples
Known GenesHK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013903
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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