A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701591



Internal ID15438243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:53664764..53696690hg38UCSC Ensembl
Innerchr16:53698676..53730602hg19UCSC Ensembl
Innerchr16:52256177..52288103hg18UCSC Ensembl
Innerchr16:52256177..52288103hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3831927
hg1931927
hg1831927
hg1731927
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525463
Supporting Variants
Samples
Known GenesRPGRIP1L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701591
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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