A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16456



Internal ID15488505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144274678..144278290hg38UCSC Ensembl
Outerchr7:144274221..144278700hg38UCSC Ensembl
Innerchr7:143971771..143975383hg19UCSC Ensembl
Outerchr7:143971314..143975793hg19UCSC Ensembl
Innerchr7:143602704..143606316hg18UCSC Ensembl
Outerchr7:143602247..143606726hg18UCSC Ensembl
Innerchr7:143409419..143413031hg17UCSC Ensembl
Outerchr7:143408962..143413441hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg384480
hg194480
hg184480
hg174480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA18552
Known GenesARHGEF34P
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)nssv16456
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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