A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3550203



Internal ID18848484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46136788..46276519hg38UCSC Ensembl
Innerchr17:44214154..44353885hg19UCSC Ensembl
Innerchr17:41569931..41709662hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38139732
hg19139732
hg18139732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1065154
Supporting Variants
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3550203
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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