A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv653



Internal ID15551448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:28268988..28293455hg38UCSC Ensembl
Outerchr12:28421921..28446388hg19UCSC Ensembl
Outerchr12:28313188..28337655hg18UCSC Ensembl
Outerchr12:28313188..28337655hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3824468
hg1924468
hg1824468
hg1724468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9015
SamplesNA12156
Known GenesCCDC91
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)nsv653
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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