A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277785



Internal ID22207247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:52016369..52054976hg38UCSC Ensembl
Outerchr7:52084065..52122672hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3838608
hg1938608
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210658
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277785
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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