A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740082



Internal ID163748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:37009457..37010486hg38UCSC Ensembl
chrX:37027530..37028559hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg381030
hg191030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415657
Supporting Variants
Samples
Known GenesFAM47C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740082
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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