A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039444



Internal ID18954897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81249695..81310502hg38UCSC Ensembl
Outerchr17:81235307..81320655hg38UCSC Ensembl
Innerchr17:79223495..79284302hg19UCSC Ensembl
Outerchr17:79209107..79294455hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3885349
hg1985349
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160499
Supporting Variants
Samples
Known GenesC17orf89, ENTHD2, LINC00482, SLC38A10, TMEM105
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)nssv4039444
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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