A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4017



Internal ID15538744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:22394055..22432067hg38UCSC Ensembl
Outerchr12:22546989..22585001hg19UCSC Ensembl
Outerchr12:22438256..22476268hg18UCSC Ensembl
Outerchr12:22438256..22476268hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3838013
hg1938013
hg1838013
hg1738013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv640
Supporting Variants
SamplesNA12878
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)nssv4017
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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