A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5885919



Internal ID22660906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215617813..215617865hg38UCSC Ensembl
chr1:215791155..215791207hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368010
Samples
Known GenesKCTD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5885919
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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