A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6337654



Internal ID20995207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2974401..4112000hg38UCSC Ensembl
chr2:2978173..4159591hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381137600
hg191181419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209163
Samples
Known GenesADI1, ALLC, COLEC11, LOC100505964, RNASEH1, RNASEH1-AS1, RPS7, TRAPPC12, TSSC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6337654
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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