A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8171



Internal ID15846083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:87034696..87053132hg38UCSC Ensembl
Outerchr7:86664012..86682448hg19UCSC Ensembl
Outerchr7:86501948..86520384hg18UCSC Ensembl
Outerchr7:86308663..86327099hg17UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg3818437
hg1918437
hg1818437
hg1718437
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16379, nssv15963
SamplesNA07048, NA19173
Known GenesKIAA1324L
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)nsv8171
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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