A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1160457

Internal ID18956980
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16754017..16820986hg38UCSC Ensembl
Outerchr17:16750987..16832218hg38UCSC Ensembl
Innerchr17:16657331..16724300hg19UCSC Ensembl
Outerchr17:16654301..16735532hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039154, nssv4039120, nssv4039102, nssv4039152, nssv4039140, nssv4039166, nssv4039145, nssv4039109, nssv4039139, nssv4039111, nssv4039116, nssv4039096, nssv4039157, nssv4039126, nssv4039090, nssv4039134, nssv4039131, nssv4039095, nssv4039106, nssv4039155, nssv4039150, nssv4039092, nssv4039125, nssv4039107, nssv4039136, nssv4039118, nssv4039113, nssv4039085, nssv4039149, nssv4039123, nssv4039089, nssv4039093, nssv4039108, nssv4039114, nssv4039129, nssv4039094, nssv4039101, nssv4039130, nssv4039124, nssv4039121, nssv4039147, nssv4039138, nssv4039133, nssv4039167, nssv4039122, nssv4039091, nssv4039153, nssv4039135, nssv4039151, nssv4039143, nssv4039165, nssv4039168, nssv4039163, nssv4039146, nssv4039104, nssv4039144, nssv4039148, nssv4039158, nssv4039083, nssv4039110, nssv4039117, nssv4039128, nssv4039082, nssv4039137, nssv4039112, nssv4039087, nssv4039160, nssv4039162, nssv4039098, nssv4039084, nssv4039161, nssv4039103, nssv4039088, nssv4039164, nssv4039141, nssv4039086, nssv4039119, nssv4039100, nssv4039142, nssv4039127, nssv4039097, nssv4039099, nssv4039105, nssv4039156, nssv4039159, nssv4039115, nssv4039132
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
Pubmed ID26073780
Accession Number(s)nsv1160457
Sample Size369
Observed Gain87
Observed Loss0
Observed Complex0

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