A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1056



Internal ID15198284
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 Flag1
Merged StatusS
Merged Variantsnsv7226
Supporting Variants
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)nssv1056
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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