A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17465436



Internal ID22523325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70396892..70398891hg38UCSC Ensembl
chr12:70790672..70792671hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5860961
Supporting Variants
Samples
Known GenesKCNMB4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17465436
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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