A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138123



Internal ID337305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1691988..1751594hg38UCSC Ensembl
chr1:1623427..1683033hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3859607
hg1959607
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902494
Samples
Known GenesCDK11A, CDK11B, MMP23A, NADK, SLC35E2, SLC35E2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138123
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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