A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509241



Internal ID15825267
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
hg383301
hg193301
hg183301
hg173301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620898, nssv619515
SamplesNA15510, NA10860
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)nsv509241
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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