A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540374



Internal ID15507318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:53400030..53522557hg38UCSC Ensembl
Innerchr7:53467723..53590250hg19UCSC Ensembl
Innerchr7:53435217..53557744hg18UCSC Ensembl
Innerchr7:53241932..53364459hg17UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38122528
hg19122528
hg18122528
hg17122528
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464459
Supporting Variants
SamplesHGDP00643
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)nssv540374
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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