A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5005



Internal ID15544013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:94030532..94064259hg38UCSC Ensembl
Outerchr7:93659844..93693571hg19UCSC Ensembl
Outerchr7:93497780..93531507hg18UCSC Ensembl
Outerchr7:93304495..93338222hg17UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg385560
hg195560
hg185560
hg175560
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5849
Supporting Variants
SamplesNA19129
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)nssv5005
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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