A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534773



Internal ID15161611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:201297..733582hg38UCSC Ensembl
Innerchr17:51088..636822hg19UCSC Ensembl
Innerchr17:51088..583572hg18UCSC Ensembl
Innerchr17:51088..583572hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38532286
hg19585735
hg18532485
hg17532485
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457627
Supporting Variants
SamplesHGDP00796
Known GenesC17orf97, FAM101B, FAM57A, LOC100506388, RPH3AL, VPS53
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)nssv534773
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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