A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27194



Internal ID15839764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80113653..80116345hg38UCSC Ensembl
Outerchr17:80113007..80118021hg38UCSC Ensembl
Innerchr17:78087452..78090144hg19UCSC Ensembl
Outerchr17:78086806..78091820hg19UCSC Ensembl
Innerchr17:75702047..75704739hg18UCSC Ensembl
Outerchr17:75701401..75706415hg18UCSC Ensembl
Innerchr17:75702047..75704739hg17UCSC Ensembl
Outerchr17:75701401..75706415hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385015
hg195015
hg185015
hg175015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9596
Supporting Variants
SamplesNA18972
Known GenesGAA
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)nssv27194
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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