A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10594



Internal ID15542204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:970422..1001686hg38UCSC Ensembl
Outerchr8:920422..951686hg19UCSC Ensembl
Outerchr8:910422..939093hg18UCSC Ensembl
Outerchr8:910422..939093hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg388933
hg198933
hg188933
hg178933
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6039
Supporting Variants
SamplesNA18956
Known GenesERICH1-AS1
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)nssv10594
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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