A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5853442



Internal ID22628377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48116035..48119842hg38UCSC Ensembl
chr12:48509818..48513625hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg383808
hg193808
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17467292
Samples
Known GenesPFKM
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5853442
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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