A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv672374



Internal ID15062340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46092442..46715917hg38UCSC Ensembl
Innerchr17:44169808..44793283hg19UCSC Ensembl
Innerchr17:41525626..42148466hg18UCSC Ensembl
Innerchr17:41525626..42148466hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38623476
hg19623476
hg18622841
hg17622841
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516807
Supporting Variants
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv672374
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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