A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18145080



Internal ID20712120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51740860..51741473hg38UCSC Ensembl
chr6:51605658..51606271hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38614
hg19614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6399915
Supporting Variants
Samples
Known GenesPKHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18145080
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00023


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