A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006440



Internal ID19095657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91460974..91640635hg38UCSC Ensembl
Innerchr2:91653350..91828661hg19UCSC Ensembl
Innerchr2:91017077..91192388hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38179662
hg19175312
hg18175312
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3994n100
Supporting Variantsnssv3579473, nssv3579474, nssv3729118
Samples
Known GenesLOC654342
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006440
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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