A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511719



Internal ID15504458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:176507870..176510305hg38UCSC Ensembl
Outerchr1:176477006..176479441hg19UCSC Ensembl
Outerchr1:174743629..174746064hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382436
hg192436
hg182436
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626361
Samples1
Known GenesPAPPA2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511719
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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