A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14329062



Internal ID22163363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51989750..51996593hg38UCSC Ensembl
chr6:51854548..51861391hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg386844
hg196844
Variant TypeOTHER sequence alteration
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246983
Supporting Variants
SamplesHG00514
Known GenesPKHD1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14329062
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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