A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14363541



Internal ID22199704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55742401..55745450hg38UCSC Ensembl
chr12:56136185..56139234hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383050
hg193050
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222164
Supporting Variants
SamplesHG00732
Known GenesGDF11
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14363541
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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