A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510630



Internal ID15826654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23993697..24020039hg38UCSC Ensembl
Outerchr14:24462906..24489248hg19UCSC Ensembl
Outerchr14:23532746..23559088hg18UCSC Ensembl
Outerchr14:23532746..23559088hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3826343
hg1926343
hg1826343
hg1726343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617412, nssv622681
SamplesCHM, NA18994
Known GenesDHRS4L1, DHRS4L2
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)nsv510630
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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