A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5916221



Internal ID22691440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12644741..12645044hg38UCSC Ensembl
chr7:12684366..12684669hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17448108
Samples
Known GenesSCIN
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5916221
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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