A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620102



Internal ID15472771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:44201179..44340387hg38UCSC Ensembl
Outerchr17:42278547..42417755hg19UCSC Ensembl
Outerchr17:39634073..39773281hg18UCSC Ensembl
Outerchr17:39634073..39773281hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38139209
hg19139209
hg18139209
hg17139209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510713
Supporting Variants
SamplesNA15510
Known GenesMIR6782, RUNDC3A, SLC25A39, SLC4A1, UBTF
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)nssv620102
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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