A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6049791



Internal ID21959024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2602170..2602170hg38UCSC Ensembl
chr1:2533609..2533609hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17523095
Samples
Known GenesMMEL1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6049791
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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