A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4035903



Internal ID19288002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143521875..143870966hg38UCSC Ensembl
Outerchr7:143521765..143875073hg38UCSC Ensembl
Innerchr7:143218968..143568059hg19UCSC Ensembl
Outerchr7:143218858..143572166hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38353309
hg19353309
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161631
Supporting Variants
Samples
Known GenesCTAGE15, CTAGE6, EPHA1-AS1, FAM115A, FAM115C, LOC154761
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)nssv4035903
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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