A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192738



Internal ID20759778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62995491..63989677hg38UCSC Ensembl
chr12:63389271..64383457hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38994187
hg19994187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464270
Supporting Variants
Samples
Known GenesAVPR1A, DPY19L2, SRGAP1, TMEM5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192738
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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