A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv679540



Internal ID15069506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46111701..46215654hg38UCSC Ensembl
Innerchr17:44189067..44293020hg19UCSC Ensembl
Innerchr17:41544850..41648797hg18UCSC Ensembl
Innerchr17:41544850..41648797hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38103954
hg19103954
hg18103948
hg17103948
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516807
Supporting Variants
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv679540
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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