A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511379



Internal ID6102983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:93541865..93542330hg19UCSC Ensembl
Outerchr7:93540348..93542365hg19UCSC Ensembl
Innerchr7:93379801..93380266hg18UCSC Ensembl
Outerchr7:93378284..93380301hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv625985
Samples1
Known GenesGNGT1
MethodRead-depth_analysis
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformIllumina HumanOmni1-Quad BeadChip
Comments
ReferenceArlt et al 2011
Pubmed ID21212237
Accession Number(s)nsv511379
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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