A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4027553



Internal ID19291416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240511222..240514778hg38UCSC Ensembl
Outerchr2:240504237..240516816hg38UCSC Ensembl
Innerchr2:241450639..241454195hg19UCSC Ensembl
Outerchr2:241443654..241456233hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3812580
hg1912580
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160908
Supporting Variants
Samples
Known GenesANKMY1
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)nssv4027553
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