A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005401



Internal ID19094618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:89928002..90082510hg38UCSC Ensembl
Innerchr2:89966812..90121352hg19UCSC Ensembl
Innerchr2:89604119..89758657hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38154509
hg19154541
hg18154539
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3972n100
Supporting Variantsnssv3580457, nssv3580456
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)nsv1005401
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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