A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5926448



Internal ID22701675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:37886154..37887161hg38UCSC Ensembl
chr8:37743672..37744679hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg381008
hg191008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17430210
Samples
Known GenesRAB11FIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5926448
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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