A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584975



Internal ID16372384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241728674..241767423hg38UCSC Ensembl
Innerchr2:242668089..242706838hg19UCSC Ensembl
Innerchr2:242316762..242355511hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3838750
hg1938750
hg1838750
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv934780
Samples
Known GenesD2HGDH, ING5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584975
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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