A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457743



Internal ID6042760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41191129..41298855hg19UCSC Ensembl
Innerchr17:38444655..38552381hg18UCSC Ensembl
Innerchr17:38444655..38552381hg17UCSC Ensembl
Cytoband17q21.31
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 Variantsnssv534868
SamplesHGDP01028
Known GenesBRCA1, NBR2
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)nsv457743
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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