A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535321



Internal ID237251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21297853..21297889hg38UCSC Ensembl
chr1:21624346..21624382hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901065
Samples
Known GenesECE1, LOC100506801
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535321
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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