A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540525



Internal ID15161097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:90556437..90599724hg38UCSC Ensembl
Innerchr7:90185751..90229038hg19UCSC Ensembl
Innerchr7:90023687..90066974hg18UCSC Ensembl
Innerchr7:89830402..89873689hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3843288
hg1943288
hg1843288
hg1743288
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464637
Supporting Variants
SamplesHGDP00715
Known GenesCDK14
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)nssv540525
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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