A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6137983



Internal ID337164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154881606..154889606hg38UCSC Ensembl
chrX:154109881..154117881hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17738157
Samples
Known GenesF8, F8A1, F8A2, F8A3, H2AFB1, H2AFB2, H2AFB3, MIR1184-1, MIR1184-2, MIR1184-3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6137983
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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