A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574089



Internal ID16014812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:670805..937565hg38UCSC Ensembl
Innerchr17:574045..840805hg19UCSC Ensembl
Innerchr17:520795..787555hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38266761
hg19266761
hg18266761
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5389n54
Supporting Variantsnssv865110
Samples
Known GenesDBIL5P, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574089
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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