A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464642



Internal ID8491689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:94254287..94451869hg38UCSC Ensembl
Innerchr7:93883599..94081181hg19UCSC Ensembl
Innerchr7:93721535..93919117hg18UCSC Ensembl
Innerchr7:93528250..93725832hg17UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38197583
hg19197583
hg18197583
hg17197583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540530
SamplesNINDS_71
Known GenesCOL1A2
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)nsv464642
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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