A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700282



Internal ID15436934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205747861..205749436hg38UCSC Ensembl
Innerchr2:206612585..206614160hg19UCSC Ensembl
Innerchr2:206320830..206322405hg18UCSC Ensembl
Innerchr2:206438091..206439666hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381576
hg191576
hg181576
hg171576
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524370
Supporting Variants
Samples
Known GenesNRP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700282
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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