A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550781



Internal ID15991504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46224041..46330334hg38UCSC Ensembl
Innerchr10:47595277..47701570hg19UCSC Ensembl
Innerchr10:47065283..47171576hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38106294
hg19106294
hg18106294
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1115n54
Supporting Variantsnssv1174514, nssv747560, nssv747559, nssv1174513, nssv747555, nssv1174515, nssv747561, nssv747557, nssv747556, nssv747558
SamplesNINDS_84, NINDS_56, NINDS_237
Known GenesANTXRL, ANTXRLP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550781
Frequency
Sample Size17421
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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