A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457893



Internal ID15517958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:70946872..71014982hg38UCSC Ensembl
Innerchr17:68943013..69011123hg19UCSC Ensembl
Innerchr17:66454608..66522718hg18UCSC Ensembl
Innerchr17:66454608..66522718hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3868111
hg1968111
hg1868111
hg1768111
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534991
SamplesNINDS_174
Known Genes
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)nsv457893
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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