A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511134



Internal ID15503873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207119233..207119833hg38UCSC Ensembl
Outerchr1:207117781..207120151hg38UCSC Ensembl
Innerchr1:207292578..207293178hg19UCSC Ensembl
Outerchr1:207291126..207293496hg19UCSC Ensembl
Innerchr1:205359201..205359801hg18UCSC Ensembl
Outerchr1:205357749..205360119hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg382371
hg192371
hg182371
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624488
Samples1
Known GenesC4BPA
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511134
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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