A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460702



Internal ID15520767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:71856725..71881112hg38UCSC Ensembl
Innerchr3:71905876..71930263hg19UCSC Ensembl
Innerchr3:71988566..72012953hg18UCSC Ensembl
Innerchr3:71988566..72012953hg17UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg3824388
hg1924388
hg1824388
hg1724388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537237
Samples1780854557_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)nsv460702
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