A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv382



Internal ID15198282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13004384..13113498hg38UCSC Ensembl
Outerchr1:13141163..13180970hg19UCSC Ensembl
Outerchr1:13063750..13103557hg18UCSC Ensembl
Outerchr1:12965146..13004953hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38109115
hg1939808
hg1839808
hg1739808
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7172
Supporting Variants
SamplesNA19240
Known Genes
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)nssv382
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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