A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511956



Internal ID15851381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:29983356..29985658hg38UCSC Ensembl
Outerchr7:30022972..30025274hg19UCSC Ensembl
Outerchr7:29989497..29991799hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg382303
hg192303
hg182303
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624497
Samples1
Known GenesSCRN1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511956
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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