A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062956



Internal ID21433167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217524873..217524873hg38UCSC Ensembl
chr1:217698215..217698215hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5618919
Supporting Variants
SamplesHG00731
Known GenesGPATCH2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062956
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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