A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17433850



Internal ID22491720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6469203..6469524hg38UCSC Ensembl
chr7:6508834..6509155hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5919129
Supporting Variants
Samples
Known GenesKDELR2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17433850
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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