A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17454282



Internal ID22512158
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 StatusS
Merged Variantsnsv5879206
Supporting Variants
Samples
Known GenesSH3KBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17454282
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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