A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9338



Internal ID15540289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47949747..47951696hg38UCSC Ensembl
Outerchr19:48453004..48454953hg19UCSC Ensembl
Outerchr19:53144816..53146765hg18UCSC Ensembl
Outerchr19:53144816..53146765hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3822610
hg1922610
hg1822610
hg1722610
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2515
Supporting Variants
SamplesNA18517
Known GenesSNAR-C3
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)nssv9338
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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