A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17433019



Internal ID22490889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130042123..130045816hg38UCSC Ensembl
chr7:129681963..129685656hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg383694
hg193694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5908222
Supporting Variants
Samples
Known GenesZC3HC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17433019
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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