A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960067



Internal ID18868079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:32999333..33002233hg38UCSC Ensembl
Outerchr2:33224400..33227300hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382901
hg192901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110416
Supporting Variants
SamplesKWS1
Known GenesLTBP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960067
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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