A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5751



Internal ID15543661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47953124..47966313hg38UCSC Ensembl
Outerchr19:48456381..48469570hg19UCSC Ensembl
Outerchr19:53148193..53161382hg18UCSC Ensembl
Outerchr19:53148193..53161382hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3822832
hg1922832
hg1822832
hg1722832
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2515
Supporting Variants
SamplesNA19129
Known GenesSNAR-C1, SNAR-C2, SNAR-C5
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)nssv5751
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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