A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462623



Internal ID15176002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:7278096..7546171hg38UCSC Ensembl
Innerchr6:7278329..7546404hg19UCSC Ensembl
Innerchr6:7223328..7491403hg18UCSC Ensembl
Innerchr6:7223328..7491403hg17UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38268076
hg19268076
hg18268076
hg17268076
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538736
SamplesHGDP00542
Known GenesCAGE1, DSP, RIOK1, SSR1
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)nsv462623
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