A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620898



Internal ID15820249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:891671..997323hg38UCSC Ensembl
Outerchr8:841671..947323hg19UCSC Ensembl
Outerchr8:831671..934730hg18UCSC Ensembl
Outerchr8:831671..934730hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg388812
hg198812
hg188812
hg178812
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509241
Supporting Variants
SamplesNA15510
Known GenesERICH1-AS1
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv620898
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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