A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038604



Internal ID19300743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22430653..22546610hg38UCSC Ensembl
Outerchr16:22420049..22546990hg38UCSC Ensembl
Innerchr16:22441974..22557931hg19UCSC Ensembl
Outerchr16:22431370..22558311hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38126942
hg19126942
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160373
Supporting Variants
Samples
Known GenesLOC653786, NPIPB5, RRN3P3, SMG1P1
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)nssv4038604
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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