A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457678



Internal ID15517743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:14982570..14995156hg38UCSC Ensembl
Innerchr17:14885887..14898473hg19UCSC Ensembl
Innerchr17:14826612..14839198hg18UCSC Ensembl
Innerchr17:14826612..14839198hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3812587
hg1912587
hg1812587
hg1712587
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534812
SamplesHGDP01185
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)nsv457678
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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