A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278123



Internal ID22119885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:127558423..127584991hg38UCSC Ensembl
Outerchr7:127198477..127225045hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3826569
hg1926569
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216650
Supporting Variants
SamplesHG00512
Known GenesGCC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278123
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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