A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557162



Internal ID330269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73592313..73592364hg38UCSC Ensembl
chrX:72812149..72812200hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740726
Samples
Known GenesCHIC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557162
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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