A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264852



Internal ID22186203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:17931393..17945727hg38UCSC Ensembl
Outerchr2:18112660..18126994hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3814335
hg1914335
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208412
Supporting Variants
SamplesHG00731
Known GenesKCNS3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264852
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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