A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510772



Internal ID15478268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52533958..52600217hg38UCSC Ensembl
Outerchr19:53037211..53103470hg19UCSC Ensembl
Outerchr19:57729023..57795282hg18UCSC Ensembl
Outerchr19:57729023..57795282hg17UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3866260
hg1966260
hg1866260
hg1766260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620122
SamplesNA15510
Known GenesZNF137P, ZNF701, ZNF808
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)nsv510772
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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