A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17149292



Internal ID21510429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125749595..125749595hg38UCSC Ensembl
chr6:126070741..126070741hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5634247
Supporting Variants
SamplesNA24385
Known GenesHEY2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17149292
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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