A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4032652



Internal ID18949829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1907480..1990310hg38UCSC Ensembl
Outerchr19:1884553..2003982hg38UCSC Ensembl
Innerchr19:1907479..1990309hg19UCSC Ensembl
Outerchr19:1884552..2003981hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38119430
hg19119430
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160561
Supporting Variants
Samples
Known GenesABHD17A, ADAT3, BTBD2, CSNK1G2, CSNK1G2-AS1, SCAMP4
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)nssv4032652
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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