A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161563



Internal ID18956445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72932556..73288160hg38UCSC Ensembl
Outerchr7:72932296..73309388hg38UCSC Ensembl
Innerchr7:72403094..72702162hg19UCSC Ensembl
Outerchr7:72402834..72723383hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38377093
hg19320550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4035581
Samples
Known GenesGTF2IP1, LOC100093631, LOC100101148, LOC541473, NCF1B, NSUN5, NSUN5P2, PMS2L2, PMS2P5, POM121, SPDYE8P, STAG3L1, STAG3L3
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)nsv1161563
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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