A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540311



Internal ID15509103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:13788474..13829288hg38UCSC Ensembl
Innerchr7:13828099..13868913hg19UCSC Ensembl
Innerchr7:13794624..13835438hg18UCSC Ensembl
Innerchr7:13601339..13642153hg17UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg3840815
hg1940815
hg1840815
hg1740815
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464388
Supporting Variants
SamplesHGDP00942
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)nssv540311
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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