A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581699



Internal ID16369108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44415938..44435336hg38UCSC Ensembl
Innerchr2:44643077..44662475hg19UCSC Ensembl
Innerchr2:44496581..44515979hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3819399
hg1919399
hg1819399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv908039
Samples
Known GenesCAMKMT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581699
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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