A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975927



Internal ID51349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157139720..157139720hg38UCSC Ensembl
chr5:156566731..156566731hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5537432
Supporting Variants
Samples
Known GenesMED7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975927
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.106766


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