A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456049



Internal ID15516114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:85290164..85498872hg38UCSC Ensembl
Innerchr13:85864299..86073007hg19UCSC Ensembl
Innerchr13:84762300..84971008hg18UCSC Ensembl
Innerchr13:84762300..84971008hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38208709
hg19208709
hg18208709
hg17208709
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533468
SamplesNINDS_182
Known GenesLINC00351
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)nsv456049
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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