A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516119



Internal ID15096726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:9901176..9917378hg38UCSC Ensembl
Innerchr17:9804493..9820695hg19UCSC Ensembl
Innerchr17:9745218..9761420hg18UCSC Ensembl
Innerchr17:9745218..9761420hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3816203
hg1916203
hg1816203
hg1716203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv666317, nssv684355
Samples
Known GenesGAS7, RCVRN
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516119
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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