A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991336



Internal ID19236143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:9672989..9673053hg38UCSC Ensembl
Outerchr2:9813118..9813182hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138747
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991336
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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