A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16195



Internal ID15493903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144117450..144124639hg38UCSC Ensembl
Outerchr7:144116992..144125242hg38UCSC Ensembl
Innerchr7:143814543..143821732hg19UCSC Ensembl
Outerchr7:143814085..143822335hg19UCSC Ensembl
Innerchr7:143445476..143452665hg18UCSC Ensembl
Outerchr7:143445018..143453268hg18UCSC Ensembl
Innerchr7:143252191..143259380hg17UCSC Ensembl
Outerchr7:143251733..143259983hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg388251
hg198251
hg188251
hg178251
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA18980
Known Genes
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)nssv16195
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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