A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15804



Internal ID15840344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:157553515..157554519hg38UCSC Ensembl
Outerchr7:157552947..157555242hg38UCSC Ensembl
Innerchr7:157346209..157347213hg19UCSC Ensembl
Outerchr7:157345641..157347936hg19UCSC Ensembl
Innerchr7:157038970..157039974hg18UCSC Ensembl
Outerchr7:157038402..157040697hg18UCSC Ensembl
Innerchr7:156845685..156846689hg17UCSC Ensembl
Outerchr7:156845117..156847412hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg382296
hg192296
hg182296
hg172296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8242
Supporting Variants
SamplesNA18975
Known GenesPTPRN2
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)nssv15804
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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