A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161545



Internal ID19303210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:64410646..64515316hg38UCSC Ensembl
Outerchr7:64409987..64520046hg38UCSC Ensembl
Innerchr7:63871024..63975694hg19UCSC Ensembl
Outerchr7:63870365..63980424hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38110060
hg19110060
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv241n111
Supporting Variantsnssv4035442, nssv4035443
Samples
Known GenesYWHAEP1, ZNF680
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)nsv1161545
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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