A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4026348



Internal ID18943525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:245865760..245873990hg38UCSC Ensembl
Outerchr1:245865662..245874214hg38UCSC Ensembl
Innerchr1:246029062..246037292hg19UCSC Ensembl
Outerchr1:246028964..246037516hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg388553
hg198553
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160482
Supporting Variants
Samples
Known GenesSMYD3
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)nssv4026348
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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