A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277818



Internal ID22226157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:77017972..77067520hg38UCSC Ensembl
Outerchr7:76647289..76696837hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3849549
hg1949549
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218036
Supporting Variants
SamplesHG00733
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100132832
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277818
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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