A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034127



Internal ID18776661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:168728036..168755759hg38UCSC Ensembl
Innerchr5:168155041..168182764hg19UCSC Ensembl
Innerchr5:168087619..168115342hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3827724
hg1927724
hg1827724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3649119
Samples
Known GenesSLIT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034127
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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