A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6140128



Internal ID339320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74451619..74475619hg38UCSC Ensembl
chr2:74678746..74702746hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3824001
hg1924001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914105
Samples
Known GenesCCDC142, INO80B, INO80B-WBP1, MOGS, MRPL53, WBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6140128
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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