A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512756



Internal ID15852178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212468343..212468671hg38UCSC Ensembl
Outerchr1:212641685..212642013hg19UCSC Ensembl
Outerchr1:210708308..210708636hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381002
hg191002
hg181002
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625385
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512756
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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