A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5919973



Internal ID22695196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7208344..7403599hg38UCSC Ensembl
chr7:7247975..7443230hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38195256
hg19195256
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17433197
Samples
Known GenesC1GALT1, COL28A1, LOC101927354
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5919973
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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