A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534999



Internal ID15164895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73826016..74685802hg38UCSC Ensembl
Innerchr17:71822155..72681941hg19UCSC Ensembl
Innerchr17:69333750..70193536hg18UCSC Ensembl
Innerchr17:69333750..70193536hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38859787
hg19859787
hg18859787
hg17859787
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457901
Supporting Variants
SamplesNINDS_116
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, DNAI2, GPR142, GPRC5C, KIF19, LINC00469, MGC16275, RAB37, RPL38, TTYH2
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)nssv534999
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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