A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5845538



Internal ID22620473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51815462..51816461hg38UCSC Ensembl
chr6:51680260..51681259hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17506451, nssv17506452
Samples
Known GenesPKHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5845538
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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