A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527485



Internal ID8421760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:151266077..151267595hg38UCSC Ensembl
Innerchr5:150645638..150647156hg19UCSC Ensembl
Innerchr5:150625831..150627349hg18UCSC Ensembl
Innerchr5:150625831..150627349hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg381519
hg191519
hg181519
hg171519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703932
Samples
Known GenesGM2A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527485
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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