A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4035816



Internal ID18941229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:141387329..141391010hg38UCSC Ensembl
Outerchr7:141387090..141391865hg38UCSC Ensembl
Innerchr7:141087129..141090810hg19UCSC Ensembl
Outerchr7:141086890..141091665hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg384776
hg194776
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161620
Supporting Variants
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)nssv4035816
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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