A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177931



Internal ID20744971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32714416..32912368hg38UCSC Ensembl
chr12:32867350..33065302hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38197953
hg19197953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6455690
Supporting Variants
Samples
Known GenesDNM1L, PKP2, YARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177931
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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