A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7866



Internal ID15535998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130618956..130652864hg38UCSC Ensembl
Outerchr3:130337800..130371708hg19UCSC Ensembl
Outerchr3:131820490..131854398hg18UCSC Ensembl
Outerchr3:131820498..131854406hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385524
hg195524
hg185524
hg175524
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4005
Supporting Variants
SamplesNA12156
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)nssv7866
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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