A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277311



Internal ID22121437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:9543023..9614946hg38UCSC Ensembl
Outerchr7:9582653..9654576hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3871924
hg1971924
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227921
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277311
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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