A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125684



Internal ID19271169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:9317133..9317225hg38UCSC Ensembl
Outerchr2:9457262..9457354hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983891
SamplesKWS2
Known GenesASAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125684
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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