A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969058



Internal ID19246685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240923483..240925183hg38UCSC Ensembl
Outerchr2:241862900..241864600hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133495
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969058
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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