A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039010



Internal ID18954463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2380900..2397831hg38UCSC Ensembl
Outerchr17:2377640..2402666hg38UCSC Ensembl
Innerchr17:2284194..2301125hg19UCSC Ensembl
Outerchr17:2280934..2305960hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3825027
hg1925027
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160444
Supporting Variants
Samples
Known GenesMNT, SGSM2
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)nssv4039010
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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