A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509256



Internal ID15825282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25714633..25736704hg38UCSC Ensembl
Outerchr8:25572149..25594220hg19UCSC Ensembl
Outerchr8:25628066..25650137hg18UCSC Ensembl
Outerchr8:25628066..25650137hg17UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg384077
hg194077
hg184077
hg174077
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619523
SamplesNA10860
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)nsv509256
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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