A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1419643



Internal ID15583427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44390715..44395283hg38UCSC Ensembl
Innerchr17:42468083..42472651hg19UCSC Ensembl
Innerchr17:39823609..39828177hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384569
hg194569
hg184569
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv820313
Supporting Variants
SamplesAK1
Known GenesGPATCH8
MethodOligo aCGH
AnalysisThe array was scanned with Agilent DNA microarray scanner at 2 micron resolution. The resulting image was extracted by Agilent's Feature Extraction software. The log2 ratios were analyzed using NEXUS software. Each aberration call was manually checked to confirm the accuracy of the calls.
PlatformGSE19651
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nssv1419643
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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