A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519963



Internal ID15447256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:10544265..10548843hg38UCSC Ensembl
Innerchr2:10684391..10688969hg19UCSC Ensembl
Innerchr2:10601842..10606420hg18UCSC Ensembl
Innerchr2:10634989..10639567hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg384579
hg194579
hg184579
hg174579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv659716, nssv684693, nssv680797
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519963
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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