A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6460348



Internal ID21117901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95528527..95690213hg38UCSC Ensembl
chr12:95922303..96083989hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38161687
hg19161687
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191407
Samples
Known GenesNTN4, PGAM1P5, USP44
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6460348
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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