A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv662275



Internal ID15052241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:30736396..30765509hg38UCSC Ensembl
Innerchr2:30959262..30988375hg19UCSC Ensembl
Innerchr2:30812766..30841879hg18UCSC Ensembl
Innerchr2:30870913..30900026hg17UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3829114
hg1929114
hg1829114
hg1729114
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520269
Supporting Variants
Samples
Known GenesCAPN13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv662275
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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