A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3696



Internal ID15538424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141622961..141657501hg38UCSC Ensembl
Outerchr8:142633061..142667601hg19UCSC Ensembl
Outerchr8:142702243..142736783hg18UCSC Ensembl
Outerchr8:142702243..142736783hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg384748
hg194748
hg184748
hg174748
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6434
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)nssv3696
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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