A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7427



Internal ID15189751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6305694..6350346hg38UCSC Ensembl
Outerchr19:6305705..6350357hg19UCSC Ensembl
Outerchr19:6256705..6301357hg18UCSC Ensembl
Outerchr19:6256705..6301357hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3844653
hg1944653
hg1844653
hg1744653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2399
Supporting Variants
SamplesNA12156
Known GenesACER1
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)nssv7427
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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