A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001093



Internal ID68318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75458779..75464000hg38UCSC Ensembl
chr7:75088044..75093265hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg385222
hg195222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5489617
Supporting Variants
Samples
Known GenesPOM121C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001093
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000791


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