A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19920



Internal ID15497193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143861900..144280839hg38UCSC Ensembl
Outerchr7:143861750..144280878hg38UCSC Ensembl
Innerchr7:143558993..143977932hg19UCSC Ensembl
Outerchr7:143558843..143977971hg19UCSC Ensembl
Innerchr7:143189926..143608865hg18UCSC Ensembl
Outerchr7:143189776..143608904hg18UCSC Ensembl
Innerchr7:142996641..143415580hg17UCSC Ensembl
Outerchr7:142996491..143415619hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38419129
hg19419129
hg18419129
hg17419129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA19221
Known GenesARHGEF34P, ARHGEF35, CTAGE4, CTAGE8, FAM115A, OR2A1, OR2A12, OR2A14, OR2A2, OR2A20P, OR2A25, OR2A42, OR2A5, OR2A7, OR2A9P, OR2F1, OR2F2, OR6B1, RNU6-57P
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)nssv19920
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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