A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011978



Internal ID18754514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169930286..169977295hg38UCSC Ensembl
Innerchr1:169899427..169946436hg19UCSC Ensembl
Innerchr1:168166051..168213060hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3847010
hg1947010
hg1847010
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv461n100
Supporting Variantsnssv3484566, nssv3500796
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)nsv1011978
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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