A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582793



Internal ID16370202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:120387776..120431741hg38UCSC Ensembl
Innerchr2:121145352..121189317hg19UCSC Ensembl
Innerchr2:120861822..120905787hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3843966
hg1943966
hg1843966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv916440
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582793
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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