A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4011199



Internal ID22072830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38727277..38728719hg38UCSC Ensembl
Outerchr2:38721006..38729805hg38UCSC Ensembl
Innerchr2:38954419..38955861hg19UCSC Ensembl
Outerchr2:38948148..38956947hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg388800
hg198800
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155433
Supporting Variants
Samples
Known GenesGALM
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4011199
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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