A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv301



Internal ID15198590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51402359..51440360hg38UCSC Ensembl
Outerchr3:51439790..51474376hg19UCSC Ensembl
Outerchr3:51414830..51449416hg18UCSC Ensembl
Outerchr3:51414830..51449416hg17UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg386408
hg196408
hg186408
hg176408
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3816
Supporting Variants
SamplesNA19240
Known GenesVPRBP
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)nssv301
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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