A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9628



Internal ID15540175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130615290..130648754hg38UCSC Ensembl
Outerchr3:130334134..130367598hg19UCSC Ensembl
Outerchr3:131816824..131850288hg18UCSC Ensembl
Outerchr3:131816832..131850296hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3833465
hg1933465
hg1833465
hg1733465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4004
Supporting Variants
SamplesNA18507
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)nssv9628
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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