A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15555



Internal ID15488305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:73170161..73171089hg38UCSC Ensembl
Outerchr7:73170108..73171209hg38UCSC Ensembl
Innerchr7:72584201..72585129hg19UCSC Ensembl
Outerchr7:72584148..72585249hg19UCSC Ensembl
Innerchr7:72222137..72223065hg18UCSC Ensembl
Outerchr7:72222084..72223185hg18UCSC Ensembl
Innerchr7:72028852..72029780hg17UCSC Ensembl
Outerchr7:72028799..72029900hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381102
hg191102
hg181102
hg171102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8138
Supporting Variants
SamplesNA18537
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)nssv15555
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer