A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10347



Internal ID15542451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:68582649..68595392hg38UCSC Ensembl
Outerchr3:68631800..68644543hg19UCSC Ensembl
Outerchr3:68714490..68727233hg18UCSC Ensembl
Outerchr3:68714490..68727233hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3812744
hg1912744
hg1812744
hg1712744
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3862
Supporting Variants
SamplesNA18956
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)nssv10347
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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