A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5844982



Internal ID22619917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47924600..47947043hg38UCSC Ensembl
chr6:47892336..47914779hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3822444
hg1922444
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17505866
Samples
Known GenesPTCHD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5844982
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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