A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006245



Internal ID19095463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:89933859..90082497hg38UCSC Ensembl
Innerchr2:89972669..90121339hg19UCSC Ensembl
Innerchr2:89609974..89758644hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38148639
hg19148671
hg18148671
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3973n100
Supporting Variantsnssv3580489
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006245
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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