A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465194



Internal ID15525259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148765085..148805077hg38UCSC Ensembl
Innerchr7:148462177..148502169hg19UCSC Ensembl
Innerchr7:148093110..148133102hg18UCSC Ensembl
Innerchr7:147899825..147939817hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3839993
hg1939993
hg1839993
hg1739993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541045
SamplesHGDP00669
Known GenesCUL1
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)nsv465194
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