A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027995



Internal ID19117213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176048789..176241562hg38UCSC Ensembl
Innerchr5:175475792..175668565hg19UCSC Ensembl
Innerchr5:175408398..175601171hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38192774
hg19192774
hg18192774
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5836n100
Supporting Variantsnssv3649213
Samples
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201, SIMC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027995
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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