A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4035580



Internal ID18940993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72532220..72842566hg38UCSC Ensembl
Outerchr7:72523346..72853922hg38UCSC Ensembl
Innerchr7:71997205..72313144hg19UCSC Ensembl
Outerchr7:71988331..72324502hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38330577
hg19336172
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161562
Supporting Variants
Samples
Known GenesMIR4650-1, MIR4650-2, SBDSP1, TYW1B
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)nssv4035580
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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