A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510637



Internal ID15826661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:60904403..60917425hg38UCSC Ensembl
Outerchr14:61371121..61384143hg19UCSC Ensembl
Outerchr14:60440874..60453896hg18UCSC Ensembl
Outerchr14:60440874..60453896hg17UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3813023
hg1913023
hg1813023
hg1713023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620074, nssv622685
SamplesNA15510, NA18994
Known GenesMNAT1
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)nsv510637
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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