A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv685



Internal ID15551800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:42026921..42041025hg38UCSC Ensembl
Outerchr12:42420723..42434827hg19UCSC Ensembl
Outerchr12:40706990..40721094hg18UCSC Ensembl
Outerchr12:40706990..40721094hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3814105
hg1914105
hg1814105
hg1714105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9022
SamplesNA12156
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)nsv685
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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