A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991334



Internal ID19235273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:8668383..8668467hg38UCSC Ensembl
Outerchr2:8808513..8808597hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1114048
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991334
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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