A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8138



Internal ID15499364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:73170108..73172771hg38UCSC Ensembl
Outerchr7:72584148..72586811hg19UCSC Ensembl
Outerchr7:72222084..72224747hg18UCSC Ensembl
Outerchr7:72028799..72031462hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382664
hg192664
hg182664
hg172664
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15555, nssv16026
SamplesNA10863, NA18537
Known GenesGTF2IP1, LOC100093631
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)nsv8138
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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