A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17430597



Internal ID22488467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:17042883..17045154hg38UCSC Ensembl
chrX:17061006..17063277hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg382272
hg192272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5885383
Supporting Variants
Samples
Known GenesREPS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17430597
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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