A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4030791



Internal ID18947968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67368375..67490352hg38UCSC Ensembl
Outerchr11:67362651..67501654hg38UCSC Ensembl
Innerchr11:67135846..67257823hg19UCSC Ensembl
Outerchr11:67130122..67269125hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38139004
hg19139004
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159906
Supporting Variants
Samples
Known GenesAIP, CABP4, CARNS1, CLCF1, CORO1B, GPR152, LOC100130987, MIR6752, PITPNM1, PPP1CA, PTPRCAP, RAD9A, RPS6KB2, TBC1D10C, TMEM134
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)nssv4030791
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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