A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5569327



Internal ID21517683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143815694..143815873hg38UCSC Ensembl
chr5:143195259..143195438hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17133483
SamplesNA19238
Known GenesHMHB1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5569327
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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