A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955946



Internal ID22731139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31801165..31801165hg38UCSC Ensembl
chr1:32266766..32266766hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386495
Samples
Known GenesSPOCD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955946
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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