A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511379



Internal ID8818683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:93912553..93913018hg38UCSC Ensembl
Outerchr7:93911036..93913053hg38UCSC Ensembl
Innerchr7:93541865..93542330hg19UCSC Ensembl
Outerchr7:93540348..93542365hg19UCSC Ensembl
Innerchr7:93379801..93380266hg18UCSC Ensembl
Outerchr7:93378284..93380301hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg382018
hg192018
hg182018
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625985
Samples1
Known GenesGNGT1
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
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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