A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161670



Internal ID19303385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:154601461..154609123hg38UCSC Ensembl
Outerchr7:154598185..154609307hg38UCSC Ensembl
Innerchr7:154393171..154400833hg19UCSC Ensembl
Outerchr7:154389895..154401017hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg3811123
hg1911123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4036170, nssv4036196, nssv4036186, nssv4036187, nssv4036193, nssv4036155, nssv4036162, nssv4036145, nssv4036221, nssv4036191, nssv4036185, nssv4036169, nssv4036141, nssv4036176, nssv4036156, nssv4036178, nssv4036215, nssv4036201, nssv4036163, nssv4036206, nssv4036150, nssv4036149, nssv4036213, nssv4036159, nssv4036210, nssv4036209, nssv4036144, nssv4036153, nssv4036147, nssv4036161, nssv4036220, nssv4036151, nssv4036154, nssv4036175, nssv4036198, nssv4036208, nssv4036195, nssv4036227, nssv4036222, nssv4036188, nssv4036197, nssv4036179, nssv4036157, nssv4036152, nssv4036192, nssv4036205, nssv4036212, nssv4036165, nssv4036166, nssv4036180, nssv4036207, nssv4036211, nssv4036168, nssv4036214, nssv4036182, nssv4036184, nssv4036216, nssv4036142, nssv4036200, nssv4036199, nssv4036202, nssv4036146, nssv4036204, nssv4036225, nssv4036173, nssv4036164, nssv4036138, nssv4036143, nssv4036158, nssv4036218, nssv4036217, nssv4036181, nssv4036189, nssv4036224, nssv4036228, nssv4036148, nssv4036183, nssv4036190, nssv4036139, nssv4036140, nssv4036203, nssv4036219, nssv4036223, nssv4036160, nssv4036194, nssv4036226, nssv4036177, nssv4036171, nssv4036172, nssv4036174, nssv4036167
Samples
Known GenesDPP6
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)nsv1161670
Frequency
Sample Size369
Observed Gain0
Observed Loss91
Observed Complex0
Frequencyn/a


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