A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623634



Internal ID15475521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120435117..120495113hg38UCSC Ensembl
Outerchr12:120872920..120932916hg19UCSC Ensembl
Outerchr12:119357303..119417299hg18UCSC Ensembl
Outerchr12:119335640..119395636hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383336
hg193336
hg183336
hg173336
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509482
Supporting Variants
SamplesNA18994
Known GenesCOX6A1, DYNLL1, DYNLL1-AS1, GATC, SRSF9, TRIAP1
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)nssv623634
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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