A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023853



Internal ID18766386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176043309..176463537hg38UCSC Ensembl
Innerchr5:175470312..175890538hg19UCSC Ensembl
Innerchr5:175402918..175823144hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38420229
hg19420227
hg18420227
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3746680
Samples
Known GenesARL10, CLTB, FAF2, FAM153B, HIGD2A, KIAA1191, LOC100507387, LOC100996385, LOC643201, NOP16, SIMC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023853
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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