A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031883



Internal ID19295746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:102478699..102515258hg38UCSC Ensembl
Outerchr14:102475884..102520051hg38UCSC Ensembl
Innerchr14:102945036..102981595hg19UCSC Ensembl
Outerchr14:102942221..102986388hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3844168
hg1944168
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160203
Supporting Variants
Samples
Known GenesANKRD9, TECPR2
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)nssv4031883
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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