A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536045



Internal ID15512963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:35675822..35701139hg38UCSC Ensembl
Innerchr21:37048120..37073437hg19UCSC Ensembl
Innerchr21:35969990..35995307hg18UCSC Ensembl
Innerchr21:35969990..35995307hg17UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg3825318
hg1925318
hg1825318
hg1725318
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459245
Supporting Variants
SamplesNINDS_88
Known Genes
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)nssv536045
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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