A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534836



Internal ID15162546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19717164..19760434hg38UCSC Ensembl
Innerchr17:19620477..19663747hg19UCSC Ensembl
Innerchr17:19561069..19604339hg18UCSC Ensembl
Innerchr17:19561069..19604339hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3843271
hg1943271
hg1843271
hg1743271
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457704
Supporting Variants
SamplesHGDP00961
Known GenesALDH3A1
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)nssv534836
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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