A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513753



Internal ID15853174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41376532..41382889hg38UCSC Ensembl
Outerchr17:39532784..39539141hg19UCSC Ensembl
Outerchr17:36786310..36792667hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386358
hg196358
hg186358
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv627005
Samples1
Known GenesKRT34
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513753
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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