A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039194



Internal ID19301333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18452078..18561907hg38UCSC Ensembl
Outerchr17:18416548..18565883hg38UCSC Ensembl
Innerchr17:18355392..18465221hg19UCSC Ensembl
Outerchr17:18319862..18469197hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38149336
hg19149336
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160460
Supporting Variants
Samples
Known GenesCCDC144B, FAM106A, KRT16P1, LGALS9C, LOC339240, USP32P2
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)nssv4039194
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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