A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19334



Internal ID15487877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144183290..144376529hg38UCSC Ensembl
Outerchr7:144181744..144377427hg38UCSC Ensembl
Innerchr7:143880383..144073622hg19UCSC Ensembl
Outerchr7:143878837..144074520hg19UCSC Ensembl
Innerchr7:143511316..143704555hg18UCSC Ensembl
Outerchr7:143509770..143705453hg18UCSC Ensembl
Innerchr7:143318031..143511270hg17UCSC Ensembl
Outerchr7:143316485..143512168hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38195684
hg19195684
hg18195684
hg17195684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA18517
Known GenesARHGEF34P, ARHGEF35, ARHGEF5, CTAGE4, CTAGE8, OR2A1, OR2A20P, OR2A42, OR2A7, 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)nssv19334
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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