A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16997308



Internal ID65749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43834669..43870403hg38UCSC Ensembl
chr7:43874268..43910002hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3835735
hg1935735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477119
Supporting Variants
Samples
Known GenesMRPS24, URGCP-MRPS24
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16997308
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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