A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161585



Internal ID19304492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:91402027..91411412hg38UCSC Ensembl
Outerchr7:91400153..91417678hg38UCSC Ensembl
Innerchr7:91031342..91040727hg19UCSC Ensembl
Outerchr7:91029468..91046993hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3817526
hg1917526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv243n111
Supporting Variantsnssv4035614, nssv4035607, nssv4035612, nssv4035609, nssv4035608, nssv4035623, nssv4035620, nssv4035606, nssv4035610, nssv4035617, nssv4035618, nssv4035624, nssv4035611, nssv4035626, nssv4035625, nssv4035621, nssv4035613, nssv4035616, nssv4035622, nssv4035615, nssv4035619
Samples
Known Genes
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)nsv1161585
Frequency
Sample Size369
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer