A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039940



Internal ID18955393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:46135613..46242957hg38UCSC Ensembl
Outerchr19:46133900..46244456hg38UCSC Ensembl
Innerchr19:46638870..46746214hg19UCSC Ensembl
Outerchr19:46637157..46747713hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38110557
hg19110557
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160650
Supporting Variants
Samples
Known GenesDKFZp434J0226, IGFL1, IGFL2, RNU6-66P
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)nssv4039940
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer