A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6058421



Internal ID21967655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20753115..21562826hg38UCSC Ensembl
chr22:21107403..21917115hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38809712
hg19809713
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17647870
Samples
Known GenesAIFM3, BCRP2, CRKL, FAM230B, HIC2, LOC400891, LZTR1, P2RX6, P2RX6P, PI4KA, PI4KAP2, POM121L8P, RIMBP3B, RIMBP3C, SERPIND1, SLC7A4, SNAP29, THAP7, THAP7-AS1, TMEM191C, TUBA3FP, UBE2L3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6058421
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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