A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535925



Internal ID15163124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:14254339..14326487hg38UCSC Ensembl
Innerchr21:15626660..15698808hg19UCSC Ensembl
Innerchr21:14548531..14620679hg18UCSC Ensembl
Innerchr21:14548531..14620679hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3872149
hg1972149
hg1872149
hg1772149
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459095
Supporting Variants
SamplesHGDP01090
Known GenesABCC13
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)nssv535925
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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