A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464204



Internal ID15524269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:168686412..168725230hg38UCSC Ensembl
Innerchr6:169086528..169125339hg19UCSC Ensembl
Innerchr6:168828453..168867264hg18UCSC Ensembl
Innerchr6:168904160..168942971hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3838819
hg1938812
hg1838812
hg1738812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540150
Samples1780854354_A
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)nsv464204
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer