A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520615



Internal ID15101222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:147807005..148369628hg38UCSC Ensembl
Innerchr6:148128141..148690764hg19UCSC Ensembl
Innerchr6:148169834..148732457hg18UCSC Ensembl
Innerchr6:148169834..148732457hg17UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38562624
hg19562624
hg18562624
hg17562624
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv682936, nssv673245
Samples
Known GenesSASH1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520615
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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