A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574671



Internal ID16015394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31309552..31322205hg38UCSC Ensembl
Innerchr17:29636570..29649223hg19UCSC Ensembl
Innerchr17:26660696..26673349hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3812654
hg1912654
hg1812654
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv869526
Samples
Known GenesEVI2A, EVI2B, NF1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574671
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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