A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4563



Internal ID15202599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:155706475..155739237hg38UCSC Ensembl
Outerchr4:156627627..156660389hg19UCSC Ensembl
Outerchr4:156847077..156879839hg18UCSC Ensembl
Outerchr4:156985232..157017994hg17UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg386675
hg196675
hg186675
hg176675
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7126
SamplesNA12156
Known GenesGUCY1A3
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv4563
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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