A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511371



Internal ID15504110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148377394..148379174hg38UCSC Ensembl
Outerchr7:148372390..148383555hg38UCSC Ensembl
Innerchr7:148074486..148076266hg19UCSC Ensembl
Outerchr7:148069482..148080647hg19UCSC Ensembl
Innerchr7:147705419..147707199hg18UCSC Ensembl
Outerchr7:147700415..147711580hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3811166
hg1911166
hg1811166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625975
Samples1
Known GenesCNTNAP2
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511371
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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