A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv730



Internal ID15552295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58305009..58365313hg38UCSC Ensembl
Outerchr12:58698792..58759096hg19UCSC Ensembl
Outerchr12:56985059..57045363hg18UCSC Ensembl
Outerchr12:56985059..57045363hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3860305
hg1960305
hg1860305
hg1760305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5427, nssv10868, nssv9839, nssv6510, nssv9948, nssv1088, nssv10905
SamplesNA18507, NA12156, NA18956, NA15510, NA19240, NA19129
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)nsv730
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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