A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511845



Internal ID15504584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237542604..237545324hg38UCSC Ensembl
Outerchr2:238451247..238453967hg19UCSC Ensembl
Outerchr2:238115986..238118706hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382721
hg192721
hg182721
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626502
Samples1
Known GenesMLPH
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511845
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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