A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161862



Internal ID18955816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161541620..161669769hg38UCSC Ensembl
Outerchr1:161539085..161678447hg38UCSC Ensembl
Innerchr1:161511410..161639559hg19UCSC Ensembl
Outerchr1:161508875..161648237hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38139363
hg19139363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4030041, nssv4029965, nssv4030009, nssv4029975, nssv4029990, nssv4030027, nssv4029944, nssv4030000, nssv4029952, nssv4029991, nssv4030018, nssv4030040, nssv4029941, nssv4029993, nssv4030011, nssv4029995, nssv4029968, nssv4029983, nssv4030001, nssv4030005, nssv4030016, nssv4029964, nssv4029962, nssv4029985, nssv4030010, nssv4029977, nssv4029945, nssv4030030, nssv4029942, nssv4029986, nssv4030013, nssv4029984, nssv4030023, nssv4030036, nssv4029978, nssv4029998, nssv4029988, nssv4030022, nssv4029940, nssv4029960, nssv4030017, nssv4029973, nssv4029996, nssv4030034, nssv4029943, nssv4030031, nssv4030024, nssv4029972, nssv4030006, nssv4030033, nssv4030039, nssv4030007, nssv4030012, nssv4029979, nssv4029950, nssv4029971, nssv4029976, nssv4029953, nssv4029949, nssv4030028, nssv4029974, nssv4029956, nssv4030035, nssv4030032, nssv4029967, nssv4030004, nssv4029946, nssv4030029, nssv4029966, nssv4029997, nssv4029982, nssv4029947, nssv4029987, nssv4029963, nssv4029958, nssv4029969, nssv4029951, nssv4030002, nssv4029955, nssv4029957, nssv4030038, nssv4029961, nssv4029989, nssv4030015, nssv4029980, nssv4030021, nssv4029994, nssv4029999, nssv4030020, nssv4030042, nssv4030019, nssv4029954, nssv4030008
Samples
Known GenesFCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA7
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)nsv1161862
Frequency
Sample Size369
Observed Gain93
Observed Loss0
Observed Complex0
Frequencyn/a


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