A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7226



Internal ID15205528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:4603676..4626837hg38UCSC Ensembl
Outerchr12:4712842..4736003hg19UCSC Ensembl
Outerchr12:4583103..4606264hg18UCSC Ensembl
Outerchr12:4583103..4606264hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3823162
hg1923162
hg1823162
hg1723162
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1056
SamplesNA19240
Known GenesAKAP3, DYRK4
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)nsv7226
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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