A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742534



Internal ID166200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:136231571..136231648hg38UCSC Ensembl
chrX:135313730..135313807hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138594
Supporting Variants
Samples
Known GenesMAP7D3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742534
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001094


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