A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540293



Internal ID15165296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:10865125..10949239hg38UCSC Ensembl
Innerchr7:10904752..10988866hg19UCSC Ensembl
Innerchr7:10871277..10955391hg18UCSC Ensembl
Innerchr7:10677992..10762106hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3884115
hg1984115
hg1884115
hg1784115
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464364
Supporting Variants
SamplesNINDS_179
Known GenesNDUFA4
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)nssv540293
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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