A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17440848



Internal ID22498718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36300334..36300334hg38UCSC Ensembl
chr6:36268111..36268111hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5949258
Supporting Variants
Samples
Known GenesPNPLA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17440848
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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