A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624102



Internal ID15822675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8541979..8547979hg38UCSC Ensembl
Outerchr12:8694575..8700575hg19UCSC Ensembl
Outerchr12:8585842..8591842hg18UCSC Ensembl
Outerchr12:8585842..8591842hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510286
Supporting Variants
SamplesNA18994
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)nssv624102
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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