A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv326



Internal ID15545068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:129321114..129368263hg38UCSC Ensembl
Outerchr3:129039957..129087106hg19UCSC Ensembl
Outerchr3:130522647..130569796hg18UCSC Ensembl
Outerchr3:130522655..130569804hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3847150
hg1947150
hg1847150
hg1747150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3997
Supporting Variants
SamplesNA19240
Known GenesH1FX-AS1
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)nssv326
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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