A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17082693



Internal ID21490515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41730084..41730084hg38UCSC Ensembl
chr17:39886336..39886336hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5653391
Supporting Variants
SamplesNA19238
Known GenesHAP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17082693
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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