A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160457



Internal ID18956980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16754017..16820986hg38UCSC Ensembl
Outerchr17:16750987..16832218hg38UCSC Ensembl
Innerchr17:16657331..16724300hg19UCSC Ensembl
Outerchr17:16654301..16735532hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3881232
hg1981232
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039138, nssv4039127, nssv4039168, nssv4039082, nssv4039119, nssv4039087, nssv4039111, nssv4039090, nssv4039161, nssv4039147, nssv4039130, nssv4039083, nssv4039150, nssv4039154, nssv4039135, nssv4039093, nssv4039104, nssv4039129, nssv4039095, nssv4039094, nssv4039151, nssv4039112, nssv4039096, nssv4039121, nssv4039088, nssv4039134, nssv4039115, nssv4039128, nssv4039100, nssv4039098, nssv4039160, nssv4039149, nssv4039141, nssv4039089, nssv4039124, nssv4039084, nssv4039116, nssv4039097, nssv4039164, nssv4039113, nssv4039122, nssv4039140, nssv4039144, nssv4039142, nssv4039120, nssv4039102, nssv4039109, nssv4039143, nssv4039167, nssv4039165, nssv4039126, nssv4039131, nssv4039099, nssv4039106, nssv4039139, nssv4039156, nssv4039155, nssv4039123, nssv4039101, nssv4039091, nssv4039158, nssv4039092, nssv4039152, nssv4039125, nssv4039103, nssv4039162, nssv4039148, nssv4039163, nssv4039108, nssv4039118, nssv4039105, nssv4039132, nssv4039137, nssv4039159, nssv4039136, nssv4039114, nssv4039085, nssv4039145, nssv4039166, nssv4039110, nssv4039117, nssv4039133, nssv4039157, nssv4039153, nssv4039107, nssv4039086, nssv4039146
Samples
Known GenesCCDC144A, FAM106CP, KRT16P2, USP32P1
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)nsv1160457
Frequency
Sample Size369
Observed Gain87
Observed Loss0
Observed Complex0
Frequencyn/a


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