A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621601



Internal ID15474263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:129933062..130156744hg38UCSC Ensembl
Outerchr7:129572902..129796584hg19UCSC Ensembl
Outerchr7:129360138..129583820hg18UCSC Ensembl
Outerchr7:129166853..129390535hg17UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg38223683
hg19223683
hg18223683
hg17223683
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510968
Supporting Variants
SamplesNA15510
Known GenesKLHDC10, UBE2H, ZC3HC1
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)nssv621601
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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