A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039446



Internal ID19301585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81416213..81419024hg38UCSC Ensembl
Outerchr17:81415451..81421889hg38UCSC Ensembl
Innerchr17:79390013..79392824hg19UCSC Ensembl
Outerchr17:79389251..79395689hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg386439
hg196439
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160501
Supporting Variants
Samples
Known GenesBAHCC1
MethodSNP array
Analysis1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)nssv4039446
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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