A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518967



Internal ID15446260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76315262..76340464hg38UCSC Ensembl
Innerchr17:74311343..74336545hg19UCSC Ensembl
Innerchr17:71822938..71848140hg18UCSC Ensembl
Innerchr17:71822938..71848140hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3825203
hg1925203
hg1825203
hg1725203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694293
Samples
Known GenesPRPSAP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518967
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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