A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14305633



Internal ID22258688
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194913
Supporting Variants
SamplesNA19238
Known GenesRABIF
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14305633
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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