A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464691



Internal ID15524756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:113499812..113508032hg38UCSC Ensembl
Innerchr7:113139867..113148087hg19UCSC Ensembl
Innerchr7:112927103..112935323hg18UCSC Ensembl
Innerchr7:112733818..112742038hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg388221
hg198221
hg188221
hg178221
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540564
SamplesHGDP00068
Known Genes
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)nsv464691
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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