A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7239



Internal ID15205542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122861978..122887220hg38UCSC Ensembl
Outerchr12:123346525..123371767hg19UCSC Ensembl
Outerchr12:121912478..121937720hg18UCSC Ensembl
Outerchr12:121871405..121896647hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3825243
hg1925243
hg1825243
hg1725243
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9289
SamplesNA18517
Known GenesHIP1R, VPS37B
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)nsv7239
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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