A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15992



Internal ID15480837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143581983..143728067hg38UCSC Ensembl
Outerchr7:143581063..143728822hg38UCSC Ensembl
Innerchr7:143279076..143425160hg19UCSC Ensembl
Outerchr7:143278156..143425915hg19UCSC Ensembl
Innerchr7:142989198..143056093hg18UCSC Ensembl
Outerchr7:142988278..143056848hg18UCSC Ensembl
Innerchr7:142795913..142862808hg17UCSC Ensembl
Outerchr7:142794993..142863563hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38147760
hg19147760
hg1868571
hg1768571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA07029
Known GenesFAM115C
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)nssv15992
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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