A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949252



Internal ID22724703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132792356..132792356hg38UCSC Ensembl
chr6:133113495..133113495hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17429109
Samples
Known GenesSLC18B1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949252
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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