A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5044



Internal ID15542842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:964892..982563hg38UCSC Ensembl
Outerchr8:914892..932563hg19UCSC Ensembl
Outerchr8:904892..922563hg18UCSC Ensembl
Outerchr8:904892..922563hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg387938
hg197938
hg187938
hg177938
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6039
Supporting Variants
SamplesNA19129
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)nssv5044
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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