A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv670246



Internal ID15406898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56494872..56524890hg38UCSC Ensembl
Innerchr2:56722007..56752025hg19UCSC Ensembl
Innerchr2:56575511..56605529hg18UCSC Ensembl
Innerchr2:56633658..56663676hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3830019
hg1930019
hg1830019
hg1730019
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517645
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv670246
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer