A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526176



Internal ID15453469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7416823..7432736hg38UCSC Ensembl
Innerchr17:7320142..7336055hg19UCSC Ensembl
Innerchr17:7260866..7276779hg18UCSC Ensembl
Innerchr17:7260866..7276779hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3815914
hg1915914
hg1815914
hg1715914
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702437
Samples
Known GenesC17orf74, NLGN2, SPEM1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526176
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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