A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14303619



Internal ID22296544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203652022..203652218hg38UCSC Ensembl
chr1:203621150..203621346hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205831
Supporting Variants
SamplesNA19240
Known GenesATP2B4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14303619
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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