A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521199



Internal ID15101806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:1622620..1648888hg38UCSC Ensembl
Innerchr2:1626392..1652660hg19UCSC Ensembl
Innerchr2:1605399..1631667hg18UCSC Ensembl
Innerchr2:1596689..1622957hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3826269
hg1926269
hg1826269
hg1726269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv684830, nssv696248, nssv705611, nssv691309
Samples
Known GenesPXDN
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521199
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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