A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003147



Internal ID69715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129501336..129503364hg38UCSC Ensembl
chr7:129141177..129143205hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg382029
hg192029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477987
Supporting Variants
Samples
Known GenesSMKR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003147
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.016235


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