A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4035319



Internal ID18940732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:10905100..10960264hg38UCSC Ensembl
Outerchr7:10899112..10968568hg38UCSC Ensembl
Innerchr7:10944727..10999891hg19UCSC Ensembl
Outerchr7:10938739..11008195hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3869457
hg1969457
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161498
Supporting Variants
Samples
Known GenesNDUFA4
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)nssv4035319
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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