A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957263



Internal ID22732391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138548935..138548935hg38UCSC Ensembl
chr6:138870072..138870072hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428330
Samples
Known GenesNHSL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957263
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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