A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169422



Internal ID21313905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:53108689..53113609hg38UCSC Ensembl
Outerchr5:53106218..53115955hg38UCSC Ensembl
Innerchr5:52404519..52409439hg19UCSC Ensembl
Outerchr5:52402048..52411785hg19UCSC Ensembl
Innerchr5:52440276..52445196hg18UCSC Ensembl
Outerchr5:52437805..52447542hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg389738
hg199738
hg189738
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14250745, nssv14250799, nssv14246703, nssv14247817, nssv14245229, nssv14248580, nssv14243816, nssv14246906, nssv14248668, nssv14247372, nssv14252451, nssv14242595, nssv14244017, nssv14251607, nssv14251600, nssv14246482, nssv14247145, nssv14243131, nssv14245459, nssv14251922, nssv14247992, nssv14243450, nssv14243049, nssv14245239, nssv14247768, nssv14251697, nssv14249850
SamplesNGO_13, NGO_21, NGO_27, NGO_37, NGO_18, NGO_28, NGO_53, NGO_46, NGO_17, NGO_43, NGO_54, NGO_50, NGO_39, NGO_14, NGO_30, NGO_20, NGO_26, NGO_47, NGO_40, NGO_25, NGO_33, NGO_16, NGO_52, NGO_36, NGO_42, NGO_34, NGO_44
Known GenesLOC257396, MOCS2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169422
Frequency
Sample Size93
Observed Gain1
Observed Loss26
Observed Complex0
Frequencyn/a


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