A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3620



Internal ID15191662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12877510..13084822hg38UCSC Ensembl
Outerchr1:12937331..13152285hg19UCSC Ensembl
Outerchr1:12859918..13074872hg18UCSC Ensembl
Outerchr1:12871597..12976268hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38207313
hg19214955
hg18214955
hg17104672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2965
Supporting Variants
SamplesNA12878
Known GenesPRAMEF10, PRAMEF22, PRAMEF23, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8
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)nssv3620
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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