A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476813



Internal ID254414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37946313..37946378hg38UCSC Ensembl
chr7:37985915..37985980hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16996193
Samples
Known GenesEPDR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476813
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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