A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001108



Internal ID68328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76451779..77032779hg38UCSC Ensembl
chr7:76081096..76662096hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38581001
hg19581001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5486414
Supporting Variants
Samples
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, FDPSP2, LOC100133091, POMZP3, UPK3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001108
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002501


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