A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1115n54



Internal ID20134539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46216824..46332710hg38UCSC Ensembl
chr10:47588060..47703946hg19UCSC Ensembl
chr10:47058066..47173952hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38115887
hg19115887
hg18115887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv550774, nsv550782, nsv550793, nsv550781, nsv550788, nsv550785, nsv550791, nsv550780, nsv550790
SamplesNINDS_272, NINDS_38, NINDS_55, NINDS_84, NINDS_94, NINDS_21, NINDS_56, NINDS_124, HGDP01260, 1780862564_A, NINDS_152, NINDS_237, NINDS_83, NINDS_230, NINDS_221, HGDP01019, NINDS_99, NINDS_62, NINDS_249, HGDP01018, NINDS_73, NINDS_120, NINDS_231
Known GenesANTXRL, ANTXRLP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1115n54
Frequency
Sample Size17421
Observed Gain103
Observed Loss0
Observed Complex0
Frequencyn/a


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