A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511031



Internal ID15827053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:24455919..24508788hg38UCSC Ensembl
Outerchr14:24925125..24977994hg19UCSC Ensembl
Outerchr14:23994965..24047834hg18UCSC Ensembl
Outerchr14:23994965..24047834hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3852870
hg1952870
hg1852870
hg1752870
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621628
SamplesNA15510
Known GenesCMA1
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)nsv511031
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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