A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17399592



Internal ID22457462
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 StatusS
Merged Variantsnsv5967784
Supporting Variants
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)nssv17399592
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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