A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7762



Internal ID15189416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167194849..167197123hg38UCSC Ensembl
Outerchr1:167164086..167166360hg19UCSC Ensembl
Outerchr1:165430710..165432984hg18UCSC Ensembl
Outerchr1:163895744..163898018hg17UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg385763
hg195763
hg185763
hg175763
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3421
Supporting Variants
SamplesNA12156
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)nssv7762
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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