A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17004028



Internal ID70319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152385236..152385315hg38UCSC Ensembl
chr7:152082321..152082400hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487901
Supporting Variants
Samples
Known GenesKMT2C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17004028
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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