A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948654



Internal ID21368723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2602164..2602164hg38UCSC Ensembl
chr1:2533603..2533603hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15193825
SamplesHG002
Known GenesMMEL1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948654
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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