A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892873



Internal ID22667929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130234718..130234830hg38UCSC Ensembl
chr6:130555863..130555975hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17425102
Samples
Known GenesSAMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892873
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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