A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534857



Internal ID15510104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:35357016..35441180hg38UCSC Ensembl
Innerchr17:33684035..33768199hg19UCSC Ensembl
Innerchr17:30708148..30792312hg18UCSC Ensembl
Innerchr17:30708148..30792312hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3884165
hg1984165
hg1884165
hg1784165
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457728
Supporting Variants
SamplesHGDP01189
Known GenesSLFN11, SLFN12, SLFN13
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)nssv534857
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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