A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14306034



Internal ID22258743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212202072..212202437hg38UCSC Ensembl
chr1:212375414..212375779hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195742
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14306034
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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