A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138700



Internal ID337884
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 StatusM
Merged Variants
Supporting Variantsnssv17737029
Samples
Known GenesSMC1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138700
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer