A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14602



Internal ID15839110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:52114482..52838632hg38UCSC Ensembl
Outerchr7:51965805..52968981hg38UCSC Ensembl
Innerchr7:52182178..52906325hg19UCSC Ensembl
Outerchr7:52033501..53036674hg19UCSC Ensembl
Innerchr7:52149672..52873819hg18UCSC Ensembl
Outerchr7:52000995..53004168hg18UCSC Ensembl
Innerchr7:51956387..52680534hg17UCSC Ensembl
Outerchr7:51807710..52810883hg17UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg381003177
hg191003174
hg181003174
hg171003174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8084
Supporting Variants
SamplesNA18942
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)nssv14602
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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