A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521844



Internal ID15449137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:194395007..194508560hg38UCSC Ensembl
Innerchr2:195259731..195373284hg19UCSC Ensembl
Innerchr2:194967976..195081529hg18UCSC Ensembl
Innerchr2:195085237..195198790hg17UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38113554
hg19113554
hg18113554
hg17113554
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv234n21
Supporting Variantsnssv694617
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521844
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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