A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3943926



Internal ID21363995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49114923..49114923hg38UCSC Ensembl
chrX:48971862..48971862hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38580
hg19580
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15205701
SamplesHG002
Known GenesGPKOW
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3943926
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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