A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16996272



Internal ID64964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:42504000..42509200hg38UCSC Ensembl
chr7:42543599..42548799hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg385201
hg195201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5475343
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16996272
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00125


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