A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967448



Internal ID45610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:70073807..70086903hg38UCSC Ensembl
chr5:69369634..69382730hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3813097
hg1913097
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141009
Supporting Variants
Samples
Known GenesSMN1, SMN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967448
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.073913


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