A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159841



Internal ID19304395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196761905..196832942hg38UCSC Ensembl
Outerchr1:196758720..196840786hg38UCSC Ensembl
Innerchr1:196731035..196802072hg19UCSC Ensembl
Outerchr1:196727850..196809916hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3882067
hg1982067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4026027, nssv4026025, nssv4026020, nssv4026028, nssv4026023, nssv4026026, nssv4026022, nssv4026021, nssv4026029, nssv4026019
Samples
Known GenesCFHR1, CFHR3
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)nsv1159841
Frequency
Sample Size369
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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