A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538971



Internal ID15510570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:35534425..35624967hg38UCSC Ensembl
Innerchr6:35502202..35592744hg19UCSC Ensembl
Innerchr6:35610180..35700722hg18UCSC Ensembl
Innerchr6:35610180..35700722hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3890543
hg1990543
hg1890543
hg1790543
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462913
Supporting Variants
SamplesHGDP01266
Known GenesFKBP5
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)nssv538971
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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