A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4029651



Internal ID18946828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16480031..16756096hg38UCSC Ensembl
Outerchr1:16477846..16760797hg38UCSC Ensembl
Innerchr1:16806526..17082591hg19UCSC Ensembl
Outerchr1:16804341..17087292hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38282952
hg19282952
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161242
Supporting Variants
Samples
Known GenesCROCCP2, CROCCP3, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
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)nssv4029651
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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