A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138536



Internal ID337720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121389835..121661317hg38UCSC Ensembl
chr1:121131696..121403115hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38271483
hg19271420
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv20n206
Supporting Variantsnssv16889996
Samples
Known GenesEMBP1, SRGAP2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138536
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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