A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19950



Internal ID15497212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144286424..144363961hg38UCSC Ensembl
Outerchr7:144285379..144364255hg38UCSC Ensembl
Innerchr7:143983517..144061054hg19UCSC Ensembl
Outerchr7:143982472..144061348hg19UCSC Ensembl
Innerchr7:143614450..143691987hg18UCSC Ensembl
Outerchr7:143613405..143692281hg18UCSC Ensembl
Innerchr7:143421165..143498702hg17UCSC Ensembl
Outerchr7:143420120..143498996hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3878877
hg1978877
hg1878877
hg1778877
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA19221
Known GenesARHGEF34P, ARHGEF5, OR2A1, OR2A20P, OR2A42, OR2A9P, 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)nssv19950
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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