A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5874676



Internal ID22649629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:118031420..118031471hg38UCSC Ensembl
chrX:117165383..117165434hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17430062
Samples
Known GenesKLHL13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5874676
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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