A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4035682



Internal ID19287781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101517777..101707799hg38UCSC Ensembl
Outerchr7:101513729..101711534hg38UCSC Ensembl
Innerchr7:101161058..101351079hg19UCSC Ensembl
Outerchr7:101157010..101354814hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38197806
hg19197805
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161591
Supporting Variants
Samples
Known GenesCOL26A1, LINC01007, MYL10
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)nssv4035682
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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