A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011014



Internal ID18753547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:36800676..36868752hg38UCSC Ensembl
Innerchr2:37027819..37095895hg19UCSC Ensembl
Innerchr2:36881323..36949399hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3868077
hg1968077
hg1868077
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3790n100
Supporting Variantsnssv3581472
Samples
Known GenesSTRN, VIT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011014
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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