A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278762



Internal ID22270420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:75324491..75358832hg38UCSC Ensembl
Outerchr7:74953660..74988086hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3834342
hg1934427
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220920
Supporting Variants
SamplesNA19239
Known GenesPMS2P5, SPDYE8P
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278762
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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