A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584736



Internal ID16025459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237542799..237545129hg38UCSC Ensembl
Innerchr2:238451442..238453772hg19UCSC Ensembl
Innerchr2:238116181..238118511hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382331
hg192331
hg182331
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933666, nssv933667
Samples
Known GenesMLPH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584736
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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