A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511449



Internal ID15504188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51444749..51452231hg38UCSC Ensembl
Outerchr10:51441844..51459126hg38UCSC Ensembl
Innerchr10:53204509..53211991hg19UCSC Ensembl
Outerchr10:53201604..53218886hg19UCSC Ensembl
Innerchr10:52874515..52881997hg18UCSC Ensembl
Outerchr10:52871610..52888892hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3817283
hg1917283
hg1817283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626062
Samples1
Known GenesPRKG1
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511449
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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