A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7227



Internal ID15552215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7774342..7846037hg38UCSC Ensembl
Outerchr12:7926938..7998633hg19UCSC Ensembl
Outerchr12:7818205..7889900hg18UCSC Ensembl
Outerchr12:7818205..7889900hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3871696
hg1971696
hg1871696
hg1771696
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1978, nssv1976
SamplesNA18555
Known GenesNANOG, SLC2A14
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)nsv7227
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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