A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112822



Internal ID18938438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:37452009..37452709hg38UCSC Ensembl
Outerchr3:37493500..37494200hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969495, nssv3981595
SamplesKWS2, KWS1
Known GenesITGA9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112822
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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