A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622682



Internal ID15474569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:24575977..24703105hg38UCSC Ensembl
Outerchr14:25045183..25172311hg19UCSC Ensembl
Outerchr14:24115023..24242151hg18UCSC Ensembl
Outerchr14:24115023..24242151hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38127129
hg19127129
hg18127129
hg17127129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510631
Supporting Variants
SamplesNA18994
Known GenesCTSG, GZMB, GZMH
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)nssv622682
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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