A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17434750



Internal ID22492620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:17009190..17009457hg38UCSC Ensembl
chrX:17027313..17027580hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5884525
Supporting Variants
Samples
Known GenesREPS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17434750
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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