A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160906



Internal ID18957154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232339649..232429529hg38UCSC Ensembl
Outerchr2:232328858..232438125hg38UCSC Ensembl
Innerchr2:233204359..233294239hg19UCSC Ensembl
Outerchr2:233193568..233302835hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38109268
hg19109268
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv160n111
Supporting Variantsnssv4027551
Samples
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
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)nsv1160906
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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