A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031263



Internal ID19295126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12905676..12920214hg38UCSC Ensembl
Outerchr12:12902651..12922268hg38UCSC Ensembl
Innerchr12:13058610..13073148hg19UCSC Ensembl
Outerchr12:13055585..13075202hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3819618
hg1919618
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159986
Supporting Variants
Samples
Known GenesGPRC5A, MIR614
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)nssv4031263
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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