A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6051940



Internal ID21961173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20338539..21164125hg38UCSC Ensembl
chr22:20326062..21518414hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38825587
hg191192353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17643333
Samples
Known GenesAIFM3, BCRP2, CRKL, KLHL22, LOC400891, LOC729444, LZTR1, MED15, P2RX6, P2RX6P, PI4KA, PI4KAP1, POM121L4P, RIMBP3, SCARF2, SERPIND1, SLC7A4, SNAP29, THAP7, THAP7-AS1, TMEM191A, TMEM191B, TUBA3FP, ZNF74
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6051940
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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