A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17428675



Internal ID22486545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151297015..151302638hg38UCSC Ensembl
chr6:151618150..151623773hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg385624
hg195624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5904295
Supporting Variants
Samples
Known GenesAKAP12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17428675
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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