A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6047225



Internal ID21956458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237545222..237545222hg38UCSC Ensembl
chr2:238453865..238453865hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17524712
Samples
Known GenesMLPH
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6047225
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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