A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871230



Internal ID22646167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75885879..75885936hg38UCSC Ensembl
chr1:76351564..76351621hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377592
Samples
Known GenesMSH4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5871230
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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