A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4731612



Internal ID20507532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49114937..49114937hg38UCSC Ensembl
chrX:48971876..48971876hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38559
hg19559
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16271330
Samples
Known GenesGPKOW
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4731612
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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