A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138765



Internal ID18931424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:32999395..33002225hg38UCSC Ensembl
Outerchr2:33224462..33227292hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382831
hg192831
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1884n106
Supporting Variantsnssv3966548, nssv3991357
SamplesKWS2, KWS1
Known GenesLTBP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138765
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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