A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510640



Internal ID15478136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:66603702..66618675hg38UCSC Ensembl
Outerchr14:67070420..67085393hg19UCSC Ensembl
Outerchr14:66140173..66155146hg18UCSC Ensembl
Outerchr14:66140173..66155146hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3814974
hg1914974
hg1814974
hg1714974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617415
SamplesCHM
Known GenesGPHN
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)nsv510640
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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