A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886315



Internal ID22661301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7700117..7700173hg38UCSC Ensembl
chr1:7760177..7760233hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17383524
Samples
Known GenesCAMTA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886315
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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