A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190753



Internal ID22341573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:21075739..21206721hg38UCSC Ensembl
Outerchr4:21077362..21208344hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg38130983
hg19130983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272344, nssv14272342, nssv14272343, nssv14272340, nssv14272345, nssv14272338, nssv14272341, nssv14272339
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesKCNIP4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190753
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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