A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5906568



Internal ID22681769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140428833..140428891hg38UCSC Ensembl
chr5:139808418..139808476hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17426938
Samples
Known GenesANKHD1, ANKHD1-EIF4EBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5906568
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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