A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525277



Internal ID15452570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239640692..239679472hg38UCSC Ensembl
Innerchr2:240562386..240601166hg19UCSC Ensembl
Innerchr2:240227323..240266103hg18UCSC Ensembl
Innerchr2:240298640..240337420hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3838781
hg1938781
hg1838781
hg1738781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701380
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525277
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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