A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160670



Internal ID18957689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:58434689..58586487hg38UCSC Ensembl
Outerchr19:58433008..58586487hg38UCSC Ensembl
Innerchr19:58946056..59097854hg19UCSC Ensembl
Outerchr19:58944375..59097854hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38153480
hg19153480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4040177
Samples
Known GenesCENPBD1P1, CHMP2A, LOC100131691, MIR6807, MZF1, SLC27A5, TRIM28, UBE2M, ZBTB45, ZNF132, ZNF324, ZNF324B, ZNF446
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)nsv1160670
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer