A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975644



Internal ID51156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149631460..149633443hg38UCSC Ensembl
chr5:149011023..149013006hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381984
hg191984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465077
Supporting Variants
Samples
Known GenesARHGEF37
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975644
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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