A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537294



Internal ID15508523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21858059..21889786hg38UCSC Ensembl
Innerchr1:22184552..22216279hg19UCSC Ensembl
Innerchr1:22057139..22088866hg18UCSC Ensembl
Innerchr1:21929858..21961585hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3831728
hg1931728
hg1831728
hg1731728
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460784
Supporting Variants
SamplesHGDP00857
Known GenesHSPG2
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)nssv537294
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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