A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17737029



Internal ID160695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:53386964..53392300hg38UCSC Ensembl
chrX:53413884..53419220hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg385337
hg195337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138700
Supporting Variants
Samples
Known GenesSMC1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17737029
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00083875


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