A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16992529



Internal ID62487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5895867..6829202hg38UCSC Ensembl
chr7:5935498..6868833hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38933336
hg19933336
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554365
Supporting Variants
Samples
Known GenesAIMP2, ANKRD61, C7orf26, CCZ1, CCZ1B, CYTH3, DAGLB, EIF2AK1, FAM220A, GRID2IP, KDELR2, PMS2, PMS2CL, RAC1, RSPH10B, RSPH10B2, USP42, ZDHHC4, ZNF12, ZNF316, ZNF853
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16992529
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.019981


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