A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15205688



Internal ID21344489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:45040275..45040275hg38UCSC Ensembl
chrX:44899520..44899520hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3927920
Supporting Variants
SamplesHG002
Known GenesKDM6A
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15205688
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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