A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12501



Internal ID15491460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:16152..68292hg38UCSC Ensembl
Outerchr4:10005..71427hg38UCSC Ensembl
Innerchr4:16152..68184hg19UCSC Ensembl
Outerchr4:10005..71319hg19UCSC Ensembl
Innerchr4:6152..58184hg18UCSC Ensembl
Outerchr4:5..61319hg18UCSC Ensembl
Innerchr4:6152..58184hg17UCSC Ensembl
Outerchr4:5..61319hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3861423
hg1961315
hg1861315
hg1761315
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10409
Supporting Variants
SamplesNA18860
Known GenesZNF595, ZNF718
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)nssv12501
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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