A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517189



Internal ID15444482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:54031357..54038354hg38UCSC Ensembl
Innerchr6:53896155..53903152hg19UCSC Ensembl
Innerchr6:54004114..54011111hg18UCSC Ensembl
Innerchr6:54004114..54011111hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg386998
hg196998
hg186998
hg176998
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv677460, nssv653967, nssv669911
Samples
Known GenesMLIP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517189
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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