A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622575



Internal ID15821148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:66259235..66377652hg38UCSC Ensembl
Outerchr7:65724222..65842639hg19UCSC Ensembl
Outerchr7:65361657..65480074hg18UCSC Ensembl
Outerchr7:65168372..65286789hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38118418
hg19118418
hg18118418
hg17118418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508458
Supporting Variants
SamplesNA18994
Known GenesLINC00174, TPST1
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)nssv622575
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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