A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19980



Internal ID15497240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144367400..144377427hg38UCSC Ensembl
Outerchr7:144367040..144378447hg38UCSC Ensembl
Innerchr7:144064493..144074520hg19UCSC Ensembl
Outerchr7:144064133..144075540hg19UCSC Ensembl
Innerchr7:143695426..143705453hg18UCSC Ensembl
Outerchr7:143695066..143706473hg18UCSC Ensembl
Innerchr7:143502141..143512168hg17UCSC Ensembl
Outerchr7:143501781..143513188hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3811408
hg1911408
hg1811408
hg1711408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA19221
Known GenesARHGEF5
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)nssv19980
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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