A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283403



Internal ID22188180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111555239..111560473hg38UCSC Ensembl
chr1:112097861..112103095hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg385235
hg195235
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196794
Supporting Variants
SamplesHG00731
Known GenesADORA3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283403
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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