A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457719



Internal ID15171098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28867616..29014758hg38UCSC Ensembl
Innerchr17:27194634..27341776hg19UCSC Ensembl
Innerchr17:24218760..24365902hg18UCSC Ensembl
Innerchr17:24218760..24365902hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38147143
hg19147143
hg18147143
hg17147143
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534850
SamplesNINDS_71
Known GenesDHRS13, FLOT2, PHF12, SEZ6
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv457719
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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