A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602988



Internal ID16043711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:41734877..41740926hg38UCSC Ensembl
Innerchr6:41702615..41708664hg19UCSC Ensembl
Innerchr6:41810593..41816642hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg386050
hg196050
hg186050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1058417
Samples
Known GenesPGC, TFEB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602988
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer