A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540318



Internal ID15164559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:16875904..17375160hg38UCSC Ensembl
Innerchr7:16915528..17414784hg19UCSC Ensembl
Innerchr7:16882053..17381309hg18UCSC Ensembl
Innerchr7:16688768..17188024hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38499257
hg19499257
hg18499257
hg17499257
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464398
Supporting Variants
SamplesHGDP01376
Known GenesAGR3, AHR
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)nssv540318
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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