A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464642



Internal ID6049469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:93883599..94081181hg19UCSC Ensembl
Innerchr7:93721535..93919117hg18UCSC Ensembl
Innerchr7:93528250..93725832hg17UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv540530
SamplesNINDS_71
Known GenesCOL1A2
MethodSNP_genotyping_analysis
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 Provided
Comments
ReferenceItsara et al 2009
Pubmed ID19166990
Accession Number(s)nsv464642
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