A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512731



Internal ID15505467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30732288..30732527hg38UCSC Ensembl
Outerchr1:31205135..31205374hg19UCSC Ensembl
Outerchr1:30977722..30977961hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg382383
hg192383
hg182383
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625357
Samples1
Known GenesLAPTM5
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512731
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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