A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5905549



Internal ID22680736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2048031..2048148hg38UCSC Ensembl
chr6:2048265..2048382hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17418849
Samples
Known GenesGMDS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5905549
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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