A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161731



Internal ID19302563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12791219..12795017hg38UCSC Ensembl
Outerchr8:12788880..12796024hg38UCSC Ensembl
Innerchr8:12648728..12652526hg19UCSC Ensembl
Outerchr8:12646389..12653533hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387145
hg197145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4036639, nssv4036656, nssv4036662, nssv4036661, nssv4036663, nssv4036631, nssv4036633, nssv4036638, nssv4036615, nssv4036651, nssv4036626, nssv4036649, nssv4036637, nssv4036653, nssv4036646, nssv4036655, nssv4036617, nssv4036622, nssv4036625, nssv4036628, nssv4036645, nssv4036636, nssv4036659, nssv4036620, nssv4036624, nssv4036641, nssv4036640, nssv4036665, nssv4036642, nssv4036666, nssv4036623, nssv4036652, nssv4036657, nssv4036667, nssv4036629, nssv4036664, nssv4036619, nssv4036647, nssv4036650, nssv4036643, nssv4036658, nssv4036616, nssv4036630, nssv4036618, nssv4036648, nssv4036634, nssv4036660, nssv4036644, nssv4036654, nssv4036627, nssv4036635, nssv4036621, nssv4036632
Samples
Known GenesLINC00681, LOC340357
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)nsv1161731
Frequency
Sample Size369
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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