A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5870514



Internal ID22645450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77793630..77794260hg38UCSC Ensembl
chr1:78259315..78259945hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38631
hg19631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382441
Samples
Known GenesFAM73A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5870514
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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