A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512951



Internal ID15505687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:40820720..40820900hg38UCSC Ensembl
Outerchr8:40678239..40678419hg19UCSC Ensembl
Outerchr8:40797396..40797576hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381464
hg191464
hg181464
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625603
Samples1
Known GenesZMAT4
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512951
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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