A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17004625



Internal ID70718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147735814..147738254hg38UCSC Ensembl
chr7:147432906..147435346hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382441
hg192441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487857
Supporting Variants
Samples
Known GenesCNTNAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17004625
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001405


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