A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510751



Internal ID15826776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5356422..5487594hg38UCSC Ensembl
Outerchr19:5356433..5487605hg19UCSC Ensembl
Outerchr19:5307433..5438605hg18UCSC Ensembl
Outerchr19:5307433..5438605hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38131173
hg19131173
hg18131173
hg17131173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622741
SamplesNA18994
Known GenesZNRF4
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)nsv510751
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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