A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161618



Internal ID19303303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140304239..140308666hg38UCSC Ensembl
Outerchr7:140303735..140310105hg38UCSC Ensembl
Innerchr7:140004039..140008466hg19UCSC Ensembl
Outerchr7:140003535..140009905hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg386371
hg196371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4035813, nssv4035814
Samples
Known Genes
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)nsv1161618
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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