A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201231



Internal ID22350568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:86460884..86496137hg38UCSC Ensembl
Outerchr2:86688007..86723260hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3835254
hg1935254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265226
SamplesHG00731
Known GenesKDM3A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201231
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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