A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112780



Internal ID19276228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:236237157..236237857hg38UCSC Ensembl
Outerchr2:237145800..237146500hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969054, nssv3981532
SamplesKWS2, KWS1
Known GenesASB18
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112780
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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