A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574090



Internal ID16014813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:697017..745827hg38UCSC Ensembl
Innerchr17:600257..649067hg19UCSC Ensembl
Innerchr17:547007..595817hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3848811
hg1948811
hg1848811
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv865111
Samples
Known GenesFAM57A, GEMIN4, VPS53
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574090
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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