A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7230



Internal ID15205533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:52251280..52331241hg38UCSC Ensembl
Outerchr12:52645064..52725025hg19UCSC Ensembl
Outerchr12:50931331..51011292hg18UCSC Ensembl
Outerchr12:50931331..51011292hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3879962
hg1979962
hg1879962
hg1779962
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1996, nssv9837
SamplesNA18507, NA18555
Known GenesKRT81, KRT83, KRT86
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)nsv7230
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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