A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457661



Internal ID15171040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:8106586..8147661hg38UCSC Ensembl
Innerchr17:8009904..8050979hg19UCSC Ensembl
Innerchr17:7950629..7991704hg18UCSC Ensembl
Innerchr17:7950629..7991704hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3841076
hg1941076
hg1841076
hg1741076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534797
SamplesNINDS_3
Known GenesALOXE3, HES7, MIR6883, PER1
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)nsv457661
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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