A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17351300



Internal ID22576969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70384946..70384996hg38UCSC Ensembl
chr12:70778726..70778776hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5946849
Supporting Variants
Samples
Known GenesKCNMB4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17351300
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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