A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204669



Internal ID22353483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243608399..243608770hg38UCSC Ensembl
chr1:243771701..243772072hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14317668, nssv14317669, nssv14317670
SamplesNA19238, NA19239, HG00733
Known GenesAKT3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204669
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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