A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160379



Internal ID19302439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22546611..22693200hg38UCSC Ensembl
Outerchr16:22430699..22699421hg38UCSC Ensembl
Innerchr16:22557932..22704521hg19UCSC Ensembl
Outerchr16:22442020..22710742hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38268723
hg19268723
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv115n111
Supporting Variantsnssv4038615, nssv4038638, nssv4038627, nssv4038676, nssv4038651, nssv4038633, nssv4038650, nssv4038690, nssv4038696, nssv4038626, nssv4038670, nssv4038662, nssv4038618, nssv4038700, nssv4038691, nssv4038660, nssv4038643, nssv4038704, nssv4038647, nssv4038689, nssv4038640, nssv4038658, nssv4038610, nssv4038679, nssv4038639, nssv4038701, nssv4038687, nssv4038682, nssv4038630, nssv4038663, nssv4038706, nssv4038628, nssv4038624, nssv4038692, nssv4038608, nssv4038695, nssv4038652, nssv4038622, nssv4038703, nssv4038634, nssv4038653, nssv4038636, nssv4038644, nssv4038659, nssv4038671, nssv4038694, nssv4038616, nssv4038623, nssv4038631, nssv4038632, nssv4038675, nssv4038666, nssv4038637, nssv4038698, nssv4038665, nssv4038620, nssv4038705, nssv4038685, nssv4038674, nssv4038621, nssv4038707, nssv4038697, nssv4038680, nssv4038661, nssv4038642, nssv4038672, nssv4038693, nssv4038669, nssv4038613, nssv4038678, nssv4038688, nssv4038617, nssv4038667, nssv4038657, nssv4038629, nssv4038625, nssv4038656, nssv4038655, nssv4038683, nssv4038641, nssv4038649, nssv4038684, nssv4038686, nssv4038607, nssv4038609, nssv4038619, nssv4038614, nssv4038635, nssv4038612, nssv4038645, nssv4038668, nssv4038702, nssv4038648, nssv4038646, nssv4038673, nssv4038611, nssv4038699, nssv4038654, nssv4038664, nssv4038677, nssv4038681
Samples
Known GenesLOC653786, NPIPB5, RRN3P3, SMG1P1
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)nsv1160379
Frequency
Sample Size369
Observed Gain101
Observed Loss0
Observed Complex0
Frequencyn/a


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