A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5879206



Internal ID22654175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19811183..19813084hg38UCSC Ensembl
chrX:19829301..19831202hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg381902
hg191902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17454282
Samples
Known GenesSH3KBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5879206
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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