A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012222



Internal ID18754758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169934721..169981200hg38UCSC Ensembl
Innerchr1:169903862..169950341hg19UCSC Ensembl
Innerchr1:168170486..168216965hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3846480
hg1946480
hg1846480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv461n100
Supporting Variantsnssv3492812
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)nsv1012222
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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