A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688084



Internal ID15078050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110128565..110200752hg38UCSC Ensembl
Innerchr2:110886142..110958329hg19UCSC Ensembl
Innerchr2:110243431..110315618hg18UCSC Ensembl
Innerchr2:110243517..110315704hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3872188
hg1972188
hg1872188
hg1772188
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515996
Supporting Variants
Samples
Known GenesNPHP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv688084
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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