A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5926672



Internal ID22701899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6463881..6464016hg38UCSC Ensembl
chr7:6503512..6503647hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17431826
Samples
Known GenesKDELR2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5926672
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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