A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5490620



Internal ID267872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6692000..7616000hg38UCSC Ensembl
chr8:6549521..7473522hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38924001
hg19924002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17006695
Samples
Known GenesAGPAT5, DEFA1, DEFA10P, DEFA11P, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFA8P, DEFA9P, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4B, DEFT1P, DEFT1P2, FAM66B, FAM90A7P, LINC00965, LOC100652791, MIR4659A, MIR4659B, PRR23D1, PRR23D2, SPAG11B, USP17L1P, USP17L4, XKR5, ZNF705G
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5490620
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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