A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507058



Internal ID15823149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:196394941..196400941hg38UCSC Ensembl
Outerchr2:197259665..197265665hg19UCSC Ensembl
Outerchr2:196967910..196973910hg18UCSC Ensembl
Outerchr2:197085171..197091171hg17UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622833, nssv620742, nssv621678
SamplesNA15510, NA18994, NA10860
Known GenesHECW2
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)nsv507058
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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