A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894470



Internal ID22669542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138357756..138358340hg38UCSC Ensembl
chr5:137693445..137694029hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17412662
Samples
Known GenesKDM3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894470
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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