A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517645



Internal ID15444938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56485291..56527344hg38UCSC Ensembl
Innerchr2:56712426..56754479hg19UCSC Ensembl
Innerchr2:56565930..56607983hg18UCSC Ensembl
Innerchr2:56624077..56666130hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3842054
hg1942054
hg1842054
hg1742054
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv687296, nssv693242, nssv652660, nssv681801, nssv663856, nssv670246, nssv660374
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517645
Frequency
Sample Size2026
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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