A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701380



Internal ID15438032
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 StatusS
Merged Variantsnsv525277
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701380
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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