A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040177



Internal ID18955630
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160670
Supporting Variants
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)nssv4040177
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