A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5905436



Internal ID22680623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:112304157..112311017hg38UCSC Ensembl
chr4:113225313..113232173hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg386861
hg196861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17414384
Samples
Known GenesALPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5905436
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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