A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544214



Internal ID318385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38340200..38340233hg38UCSC Ensembl
chr8:38197718..38197751hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010667
Samples
Known GenesWHSC1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544214
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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