A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15485



Internal ID15482528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144183451..144363210hg38UCSC Ensembl
Outerchr7:144183290..144363961hg38UCSC Ensembl
Innerchr7:143880544..144060303hg19UCSC Ensembl
Outerchr7:143880383..144061054hg19UCSC Ensembl
Innerchr7:143511477..143691236hg18UCSC Ensembl
Outerchr7:143511316..143691987hg18UCSC Ensembl
Innerchr7:143318192..143497951hg17UCSC Ensembl
Outerchr7:143318031..143498702hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38180672
hg19180672
hg18180672
hg17180672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA10847
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)nssv15485
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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