A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062889



Internal ID21452506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227574492..227574492hg38UCSC Ensembl
chr1:227762193..227762193hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg382714
hg192714
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5617784
Supporting Variants
SamplesHG01596
Known GenesZNF678
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062889
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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