A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534970



Internal ID15509524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58630658..58631756hg38UCSC Ensembl
Innerchr17:56708019..56709117hg19UCSC Ensembl
Innerchr17:54063018..54064116hg18UCSC Ensembl
Innerchr17:54063018..54064116hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
hg171099
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457863
Supporting Variants
SamplesHGDP01028
Known GenesTEX14
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)nssv534970
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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