A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv707



Internal ID15205356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51913177..51944329hg38UCSC Ensembl
Outerchr12:52306961..52338113hg19UCSC Ensembl
Outerchr12:50593228..50624380hg18UCSC Ensembl
Outerchr12:50593228..50624380hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg388133
hg198133
hg188133
hg178133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5421
SamplesNA19129
Known GenesACVRL1
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)nsv707
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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