A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346156



Internal ID21003709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48459222..48684373hg38UCSC Ensembl
chr2:48686361..48911512hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38225152
hg19225152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209836
Samples
Known GenesGTF2A1L, PPP1R21, STON1, STON1-GTF2A1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346156
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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