A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv652171



Internal ID15042137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2344688..2395680hg38UCSC Ensembl
Innerchr17:2247982..2298974hg19UCSC Ensembl
Innerchr17:2194732..2245724hg18UCSC Ensembl
Innerchr17:2194732..2245724hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3850993
hg1950993
hg1850993
hg1750993
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517489
Supporting Variants
Samples
Known GenesMNT, SGSM2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv652171
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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