A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623538



Internal ID15822111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:53572888..53671624hg38UCSC Ensembl
Outerchr8:54485448..54584184hg19UCSC Ensembl
Outerchr8:54648001..54746737hg18UCSC Ensembl
Outerchr8:54648001..54746737hg17UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg383599
hg193599
hg183599
hg173599
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509266
Supporting Variants
SamplesNA18994
Known Genes
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)nssv623538
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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