A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6142412



Internal ID341612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23225519..23227817hg38UCSC Ensembl
chr8:23083032..23085330hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382299
hg192299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010330
Samples
Known GenesLOC389641
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6142412
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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