A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5913107



Internal ID22688323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:87398302..87512194hg38UCSC Ensembl
chr7:87027618..87141510hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg38113893
hg19113893
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17433102
Samples
Known GenesABCB1, ABCB4, CROT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5913107
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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