A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5876378



Internal ID22651339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212020905..212020968hg38UCSC Ensembl
chr1:212194247..212194310hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350741
Samples
Known GenesINTS7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5876378
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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