A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17004985



Internal ID70957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:121186401..121187893hg38UCSC Ensembl
chr7:120826455..120827947hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg381493
hg191493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5479702
Supporting Variants
Samples
Known GenesCPED1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17004985
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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