A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv872913



Internal ID15820183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46588547..46703777hg38UCSC Ensembl
Innerchr17:44665913..44781143hg19UCSC Ensembl
Innerchr17:42021229..42136325hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38115231
hg19115231
hg18115097
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575404
Supporting Variants
Samples
Known GenesNSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv872913
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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