A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15204522



Internal ID21343327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138206341..138206341hg38UCSC Ensembl
chr8:139218584..139218584hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg381428
hg191428
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3933029
Supporting Variants
SamplesHG002
Known GenesFAM135B
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15204522
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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