A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575354



Internal ID16016077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46379862..46487204hg38UCSC Ensembl
Innerchr17:44457228..44564570hg19UCSC Ensembl
Innerchr17:41812971..41919886hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38107343
hg19107343
hg18106916
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5646n54
Supporting Variantsnssv872771, nssv872770, nssv872769, nssv872773, nssv872772
Samples
Known GenesNSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575354
Frequency
Sample Size17421
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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