A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161875



Internal ID18956234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69482739..69505361hg38UCSC Ensembl
Outerchr9:69476351..69512262hg38UCSC Ensembl
Innerchr9:72097655..72120277hg19UCSC Ensembl
Outerchr9:72091267..72127178hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3835912
hg1935912
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4037806, nssv4037807
Samples
Known GenesAPBA1
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)nsv1161875
Frequency
Sample Size369
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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