A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5884884



Internal ID22659868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78061615..78061730hg38UCSC Ensembl
chr1:78527299..78527414hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373296
Samples
Known GenesGIPC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5884884
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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