A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016170



Internal ID18758705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176050105..176223469hg38UCSC Ensembl
Innerchr5:175477108..175650472hg19UCSC Ensembl
Innerchr5:175409714..175583078hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38173365
hg19173365
hg18173365
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5835n100
Supporting Variantsnssv3649229, nssv3649228, nssv3649227, nssv3649232, nssv3649231, nssv3649234, nssv3649226, nssv3649233, nssv3649230, nssv3649235
Samples
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016170
Frequency
Sample Size29084
Observed Gain6
Observed Loss4
Observed Complex0
Frequencyn/a


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