A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224645



Internal ID22368012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52379664..52391827hg38UCSC Ensembl
Outerchr19:52882917..52895080hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3812164
hg1912164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263517, nssv14263516, nssv14263518, nssv14263520, nssv14263519
SamplesHG00512, NA19238, NA19239, HG00732, NA19240
Known GenesZNF880
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224645
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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