A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160697



Internal ID19303334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13080541..13169048hg38UCSC Ensembl
Outerchr21:13074391..13177644hg38UCSC Ensembl
Innerchr21:14452862..14541369hg19UCSC Ensembl
Outerchr21:14446712..14549965hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38103254
hg19103254
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4040398, nssv4040405, nssv4040381, nssv4040396, nssv4040411, nssv4040385, nssv4040378, nssv4040387, nssv4040407, nssv4040371, nssv4040369, nssv4040401, nssv4040393, nssv4040409, nssv4040383, nssv4040397, nssv4040384, nssv4040363, nssv4040406, nssv4040367, nssv4040377, nssv4040390, nssv4040368, nssv4040389, nssv4040413, nssv4040392, nssv4040412, nssv4040402, nssv4040379, nssv4040362, nssv4040365, nssv4040388, nssv4040408, nssv4040376, nssv4040404, nssv4040399, nssv4040394, nssv4040364, nssv4040375, nssv4040360, nssv4040403, nssv4040382, nssv4040373, nssv4040361, nssv4040370, nssv4040374, nssv4040366, nssv4040372, nssv4040391, nssv4040395, nssv4040359, nssv4040386, nssv4040410, nssv4040357, nssv4040358, nssv4040380, nssv4040400
Samples
Known GenesANKRD30BP2
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)nsv1160697
Frequency
Sample Size369
Observed Gain1
Observed Loss56
Observed Complex0
Frequencyn/a


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