A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14357304



Internal ID22128430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24668151..24670805hg38UCSC Ensembl
chr1:24994642..24997296hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg382655
hg192655
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525829
Supporting Variants
SamplesHG00512
Known GenesSRRM1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14357304
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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