A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508180



Internal ID15824207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:175473313..175480629hg38UCSC Ensembl
Outerchr2:176338041..176345357hg19UCSC Ensembl
Outerchr2:176046287..176053603hg18UCSC Ensembl
Outerchr2:176163548..176170864hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg387317
hg197317
hg187317
hg177317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617464
SamplesCHM
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)nsv508180
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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