A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203394



Internal ID22352412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62326471..62333712hg38UCSC Ensembl
chr3:62312146..62319387hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg387242
hg197242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14306638, nssv14306640, nssv14306639
SamplesHG00731, HG00732, HG00733
Known GenesC3orf14
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203394
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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