A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5982



Internal ID15196697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:124757649..124788489hg38UCSC Ensembl
Outerchr3:124476496..124507336hg19UCSC Ensembl
Outerchr3:125959186..125990026hg18UCSC Ensembl
Outerchr3:125959186..125990026hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg388442
hg198442
hg188442
hg178442
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3981
Supporting Variants
SamplesNA19129
Known GenesITGB5
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv5982
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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