A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547634



Internal ID16335043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121458637..121570001hg38UCSC Ensembl
Innerchr1:121200490..121311799hg19UCSC Ensembl
Innerchr1:120902013..121013322hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38111365
hg19111310
hg18111310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv723030, nssv723028, nssv723027, nssv1173131, nssv1173132, nssv723029, nssv1173129, nssv1173130
Samples1780862433_A, 1782681236_A, 1780862227_A, NINDS_230
Known GenesEMBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547634
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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