A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208957



Internal ID22357107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196225072..196258156hg38UCSC Ensembl
Outerchr1:196194202..196227286hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3833085
hg1933085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258317
SamplesHG00731
Known GenesKCNT2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208957
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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