A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160941



Internal ID19302682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52994359..53011909hg38UCSC Ensembl
Outerchr3:52989195..53019618hg38UCSC Ensembl
Innerchr3:53028375..53045925hg19UCSC Ensembl
Outerchr3:53023211..53053634hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3830424
hg1930424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027738, nssv4027739
Samples
Known GenesSFMBT1
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)nsv1160941
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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