A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161079



Internal ID19302604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:38901791..38908297hg38UCSC Ensembl
Outerchr4:38900725..38908741hg38UCSC Ensembl
Innerchr4:38903412..38909918hg19UCSC Ensembl
Outerchr4:38902346..38910362hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg388017
hg198017
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4028889
Samples
Known GenesFAM114A1
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)nsv1161079
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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