A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198988



Internal ID22348643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180328257..180335123hg38UCSC Ensembl
chr1:180297392..180304258hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg386867
hg196867
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14298145
SamplesHG00732
Known GenesACBD6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198988
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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