A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622741



Internal ID15821314
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 StatusS
Merged Variantsnsv510751
Supporting Variants
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)nssv622741
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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