A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161622



Internal ID18957309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:141387830..141391010hg38UCSC Ensembl
Outerchr7:141387661..141391865hg38UCSC Ensembl
Innerchr7:141087630..141090810hg19UCSC Ensembl
Outerchr7:141087461..141091665hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg384205
hg194205
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv247n111
Supporting Variantsnssv4035818
Samples
Known GenesTMEM178B
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)nsv1161622
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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