A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194397



Internal ID22344714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:90665554..90684776hg38UCSC Ensembl
Outerchr4:91586705..91605927hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3819223
hg1919223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272957, nssv14272956, nssv14272953, nssv14272960, nssv14272959, nssv14272958, nssv14272955, nssv14272954, nssv14272961
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCCSER1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194397
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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