A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194913



Internal ID22345167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202886445..202886862hg38UCSC Ensembl
chr1:202855573..202855990hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14305634, nssv14305633
SamplesNA19238, NA19240
Known GenesRABIF
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194913
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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