A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5887320



Internal ID22662312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:136247729..136253948hg38UCSC Ensembl
chrX:135329888..135336107hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg386220
hg196220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436638
Samples
Known GenesMAP7D3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5887320
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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