A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5842962



Internal ID22617897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33842844..33845872hg38UCSC Ensembl
chr5:33842949..33845977hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg383029
hg193029
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17496611
Samples
Known GenesADAMTS12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5842962
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer