A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124792



Internal ID19261935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:71570370..71572470hg38UCSC Ensembl
Outerchr2:71797500..71799600hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg382101
hg192101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976846
SamplesKWS2
Known GenesDYSF
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124792
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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