A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv310



Internal ID15545005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:76597726..76631513hg38UCSC Ensembl
Outerchr3:76646877..76680664hg19UCSC Ensembl
Outerchr3:76729567..76763354hg18UCSC Ensembl
Outerchr3:76729567..76763354hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg387212
hg197212
hg187212
hg177212
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3884
Supporting Variants
SamplesNA19240
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)nssv310
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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