A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427571



Internal ID206474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:33443850..34151742hg38UCSC Ensembl
chrX:33461967..34169859hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38707893
hg19707893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739958
Samples
Known GenesFAM47A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427571
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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