A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919



Internal ID15843032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140493690..140502264hg38UCSC Ensembl
Outerchr7:140493236..140505329hg38UCSC Ensembl
Innerchr7:140193490..140202064hg19UCSC Ensembl
Outerchr7:140193036..140205129hg19UCSC Ensembl
Innerchr7:139839959..139848533hg18UCSC Ensembl
Outerchr7:139839505..139851598hg18UCSC Ensembl
Innerchr7:139646674..139655248hg17UCSC Ensembl
Outerchr7:139646220..139658313hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3812094
hg1912094
hg1812094
hg1712094
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8216
Supporting Variants
SamplesNA19173
Known Genes
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)nssv16919
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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