A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621561



Internal ID15820909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:105822638..105846962hg38UCSC Ensembl
Outerchr3:105541482..105565806hg19UCSC Ensembl
Outerchr3:107024172..107048496hg18UCSC Ensembl
Outerchr3:107024172..107048496hg17UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3824325
hg1924325
hg1824325
hg1724325
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511097
Supporting Variants
SamplesNA15510
Known GenesCBLB
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)nssv621561
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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