A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527452



Internal ID15108059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:78516917..78519638hg38UCSC Ensembl
Innerchr17:76512999..76515720hg19UCSC Ensembl
Innerchr17:74024594..74027315hg18UCSC Ensembl
Innerchr17:74024594..74027315hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382722
hg192722
hg182722
hg172722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703893
Samples
Known GenesDNAH17
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527452
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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