A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2418



Internal ID15194029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:139323112..139327467hg38UCSC Ensembl
Outerchr3:139041954..139046309hg19UCSC Ensembl
Outerchr3:140524644..140528999hg18UCSC Ensembl
Outerchr3:140524652..140529007hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg387769
hg197769
hg187769
hg177769
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4035
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2418
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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