A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008890



Internal ID18751421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169948309..169987309hg38UCSC Ensembl
Innerchr1:169917450..169956450hg19UCSC Ensembl
Innerchr1:168184074..168223074hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3839001
hg1939001
hg1839001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv464n100
Supporting Variantsnssv3502340
Samples
Known GenesKIFAP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008890
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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