A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967784



Internal ID22742720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20337735..21327040hg38UCSC Ensembl
chr22:20325258..21681329hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38989306
hg191356072
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399592
Samples
Known GenesAIFM3, BCRP2, CRKL, FAM230B, KLHL22, LOC400891, LOC729444, LZTR1, MED15, P2RX6, P2RX6P, PI4KA, PI4KAP1, POM121L4P, POM121L8P, RIMBP3, SCARF2, SERPIND1, SLC7A4, SNAP29, THAP7, THAP7-AS1, TMEM191A, TMEM191B, TUBA3FP, ZNF74
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967784
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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