A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538729



Internal ID15504493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:1688157..1701872hg38UCSC Ensembl
Innerchr6:1688391..1702106hg19UCSC Ensembl
Innerchr6:1633390..1647105hg18UCSC Ensembl
Innerchr6:1633390..1647105hg17UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3813716
hg1913716
hg1813716
hg1713716
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462611
Supporting Variants
Samples1782681263_A
Known GenesGMDS
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)nssv538729
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