A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4027551



Internal ID18944728
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160906
Supporting Variants
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)nssv4027551
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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