A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003759



Internal ID70132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139780668..139780759hg38UCSC Ensembl
chr7:139480467..139480558hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5475385
Supporting Variants
Samples
Known GenesTBXAS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003759
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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