A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538735



Internal ID15511650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:4904146..5171775hg38UCSC Ensembl
Innerchr6:4904380..5172009hg19UCSC Ensembl
Innerchr6:4849379..5117008hg18UCSC Ensembl
Innerchr6:4849379..5117008hg17UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38267630
hg19267630
hg18267630
hg17267630
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462622
Supporting Variants
SamplesNINDS_125
Known GenesCDYL, LYRM4, MIR3691, PPP1R3G, RPP40
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)nssv538735
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