A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277332



Internal ID22192711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:103157261..103174727hg38UCSC Ensembl
Outerchr7:102797708..102815174hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3817467
hg1917467
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212366
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277332
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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