A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4028049



Internal ID19291912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130044016..130092512hg38UCSC Ensembl
Outerchr3:130042281..130100759hg38UCSC Ensembl
Innerchr3:129762859..129811355hg19UCSC Ensembl
Outerchr3:129761124..129819602hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3858479
hg1958479
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160979
Supporting Variants
Samples
Known GenesALG1L2, FAM86HP
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)nssv4028049
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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