A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021802



Internal ID18764336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:5415764..5452773hg38UCSC Ensembl
Innerchr5:5415877..5452886hg19UCSC Ensembl
Innerchr5:5468877..5505886hg18UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg3837010
hg1937010
hg1837010
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3746163, nssv3638531
Samples
Known GenesKIAA0947
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021802
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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