A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455894



Internal ID15515959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:55857016..55931047hg38UCSC Ensembl
Innerchr13:56431150..56505181hg19UCSC Ensembl
Innerchr13:55329151..55403182hg18UCSC Ensembl
Innerchr13:55329151..55403182hg17UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3874032
hg1974032
hg1874032
hg1774032
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533351
SamplesHGDP00214
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)nsv455894
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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