A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17462290



Internal ID22520175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49030453..49033035hg38UCSC Ensembl
chr12:49424236..49426818hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382583
hg192583
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5866763
Supporting Variants
Samples
Known GenesKMT2D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17462290
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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