A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4035595



Internal ID18941008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:84958900..85037180hg38UCSC Ensembl
Outerchr7:84946999..85038828hg38UCSC Ensembl
Innerchr7:84588216..84666496hg19UCSC Ensembl
Outerchr7:84576315..84668144hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3891830
hg1991830
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161578
Supporting Variants
Samples
Known GenesSEMA3D
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)nssv4035595
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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