A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4029175



Internal ID18946352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:771719..915307hg38UCSC Ensembl
Outerchr1:690090..939522hg38UCSC Ensembl
Innerchr1:707099..850687hg19UCSC Ensembl
Outerchr1:625470..874902hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38249433
hg19249433
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161363
Supporting Variants
Samples
Known GenesFAM41C, FAM87B, LINC00115, LINC01128, LOC100130417, LOC100133331, LOC100288069, SAMD11
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)nssv4029175
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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