A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456048



Internal ID15516113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:85049548..85182275hg38UCSC Ensembl
Innerchr13:85623683..85756410hg19UCSC Ensembl
Innerchr13:84521684..84654411hg18UCSC Ensembl
Innerchr13:84521684..84654411hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38132728
hg19132728
hg18132728
hg17132728
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533467
SamplesNINDS_160
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)nsv456048
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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