A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277549



Internal ID22254001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:88224466..88259584hg38UCSC Ensembl
Outerchr7:87853781..87888899hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg3835119
hg1935119
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212438
Supporting Variants
SamplesNA19238
Known GenesSRI
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277549
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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