A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17133483



Internal ID21497983
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 StatusS
Merged Variantsnsv5569327
Supporting Variants
SamplesNA19238
Known GenesHMHB1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17133483
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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