A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698586



Internal ID15088552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110133856..110143072hg38UCSC Ensembl
Innerchr2:110891433..110900649hg19UCSC Ensembl
Innerchr2:110248722..110257938hg18UCSC Ensembl
Innerchr2:110248808..110258024hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg389217
hg199217
hg189217
hg179217
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
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)nssv698586
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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