A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563714



Internal ID336644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:239954099..244216818hg38UCSC Ensembl
chr1:240117399..244380120hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg384262720
hg194262722
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897601
Samples
Known GenesAKT3, CEP170, CHML, EXO1, FH, FMN2, GREM2, KMO, LOC339529, LOC731275, MAP1LC3C, MIR3123, MIR4677, OPN3, PLD5, RGS7, RPS7P5, SDCCAG8, WDR64, ZBTB18
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563714
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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