A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6137996



Internal ID337178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:40569700..40632400hg38UCSC Ensembl
chrX:40428952..40491652hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg3862701
hg1962701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736516
Samples
Known GenesATP6AP2, CXorf38, MPC1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6137996
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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