A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584700



Internal ID16025423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233290755..233455780hg38UCSC Ensembl
Innerchr2:234199401..234364426hg19UCSC Ensembl
Innerchr2:233864140..234029165hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38165026
hg19165026
hg18165026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933637
Samples
Known GenesATG16L1, DGKD, SAG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584700
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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