A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537068



Internal ID15159597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:39315814..39356217hg38UCSC Ensembl
Innerchr3:39357305..39397708hg19UCSC Ensembl
Innerchr3:39332309..39372712hg18UCSC Ensembl
Innerchr3:39332309..39372712hg17UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3840404
hg1940404
hg1840404
hg1740404
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460509
Supporting Variants
SamplesHGDP00458
Known GenesCCR8
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)nssv537068
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