A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15086



Internal ID15494715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:17073930..17403296hg38UCSC Ensembl
Outerchr7:17073321..17404419hg38UCSC Ensembl
Innerchr7:17113554..17442920hg19UCSC Ensembl
Outerchr7:17112945..17444043hg19UCSC Ensembl
Innerchr7:17080079..17409445hg18UCSC Ensembl
Outerchr7:17079470..17410568hg18UCSC Ensembl
Innerchr7:16886794..17216160hg17UCSC Ensembl
Outerchr7:16886185..17217283hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38331099
hg19331099
hg18331099
hg17331099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8064
Supporting Variants
SamplesNA19007
Known GenesAHR
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv15086
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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