A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003605



Internal ID70024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131029858..131029909hg38UCSC Ensembl
chr7:130714617..130714668hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5410736
Supporting Variants
Samples
Known GenesLINC-PINT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003605
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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