A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16953994



Internal ID36663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:117605381..118619381hg38UCSC Ensembl
chr4:118526536..119540536hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg381014001
hg191014001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140487
Supporting Variants
Samples
Known GenesCEP170P1, NDST3, PRSS12, SNHG8, SNORA24
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16953994
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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