A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909448



Internal ID7082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10745504..10753750hg38UCSC Ensembl
chr2:10885630..10893876hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg388247
hg198247
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440446
Supporting Variants
Samples
Known GenesATP6V1C2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909448
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003904


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