A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3701



Internal ID15538429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144670527..144696727hg38UCSC Ensembl
Outerchr8:145895912..145922112hg19UCSC Ensembl
Outerchr8:145866720..145892921hg18UCSC Ensembl
Outerchr8:145866720..145892921hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg385906
hg195906
hg185906
hg175906
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6449
Supporting Variants
SamplesNA12878
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)nssv3701
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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