A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527075



Internal ID15454368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76315262..76334557hg38UCSC Ensembl
Innerchr17:74311343..74330638hg19UCSC Ensembl
Innerchr17:71822938..71842233hg18UCSC Ensembl
Innerchr17:71822938..71842233hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3819296
hg1919296
hg1819296
hg1719296
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703454
Samples
Known GenesPRPSAP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527075
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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