A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3816



Internal ID15201777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51402359..51443460hg38UCSC Ensembl
Outerchr3:51439790..51477476hg19UCSC Ensembl
Outerchr3:51414830..51452516hg18UCSC Ensembl
Outerchr3:51414830..51452516hg17UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg387707
hg197707
hg187707
hg177707
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv301, nssv3096
SamplesNA18555, NA19240
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)nsv3816
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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