A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620073



Internal ID15819428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:54212785..54296479hg38UCSC Ensembl
Outerchr14:54679503..54763197hg19UCSC Ensembl
Outerchr14:53749253..53832947hg18UCSC Ensembl
Outerchr14:53749253..53832947hg17UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg3883695
hg1983695
hg1883695
hg1783695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510636
Supporting Variants
SamplesNA15510
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)nssv620073
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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