A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285846



Internal ID22221071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150991080..150991288hg38UCSC Ensembl
chr1:150963556..150963764hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525175
Supporting Variants
SamplesHG00733
Known GenesANXA9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14285846
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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