A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011244



Internal ID18753778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:19974915..20016443hg38UCSC Ensembl
Innerchr2:20174676..20216204hg19UCSC Ensembl
Innerchr2:20038157..20079685hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3841529
hg1941529
hg1841529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3736n100
Supporting Variantsnssv3578986
Samples
Known GenesMATN3, WDR35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011244
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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