A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4004



Internal ID15548670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130615290..130671229hg38UCSC Ensembl
Outerchr3:130334134..130390073hg19UCSC Ensembl
Outerchr3:131816824..131872763hg18UCSC Ensembl
Outerchr3:131816832..131872771hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3855940
hg1955940
hg1855940
hg1755940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv328, nssv4681, nssv9628
SamplesNA18507, NA19240, NA19129
Known GenesCOL6A6
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)nsv4004
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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