A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536042



Internal ID15155574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:30714005..30852615hg38UCSC Ensembl
Innerchr21:32086323..32224934hg19UCSC Ensembl
Innerchr21:31008194..31146805hg18UCSC Ensembl
Innerchr21:31008194..31146805hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38138611
hg19138612
hg18138612
hg17138612
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459237
Supporting Variants
Samples1780854261_A
Known GenesKRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP7-1, KRTAP8-1
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)nssv536042
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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