A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2801382



Internal ID21246720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217524878..217524878hg38UCSC Ensembl
chr1:217698220..217698220hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13677302
Samples
Known GenesGPATCH2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2801382
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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