A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161493



Internal ID19304536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:6814479..6824452hg38UCSC Ensembl
Outerchr7:6799093..6824616hg38UCSC Ensembl
Innerchr7:6854110..6864083hg19UCSC Ensembl
Outerchr7:6838724..6864247hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3825524
hg1925524
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4035291, nssv4035287, nssv4035286, nssv4035302, nssv4035307, nssv4035299, nssv4035292, nssv4035290, nssv4035305, nssv4035297, nssv4035309, nssv4035279, nssv4035301, nssv4035312, nssv4035283, nssv4035310, nssv4035284, nssv4035308, nssv4035313, nssv4035295, nssv4035282, nssv4035314, nssv4035281, nssv4035293, nssv4035280, nssv4035303, nssv4035285, nssv4035304, nssv4035289, nssv4035311, nssv4035300, nssv4035306, nssv4035294, nssv4035288, nssv4035298, nssv4035296
Samples
Known GenesCCZ1B
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)nsv1161493
Frequency
Sample Size369
Observed Gain33
Observed Loss3
Observed Complex0
Frequencyn/a


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