A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17107784



Internal ID21498318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118986589..118986651hg38UCSC Ensembl
chr2:119744165..119744227hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5580607
Supporting Variants
SamplesNA19239
Known GenesMARCO
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17107784
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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