A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11000



Internal ID15539588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47949706..47979206hg38UCSC Ensembl
Outerchr19:48452963..48482463hg19UCSC Ensembl
Outerchr19:53144775..53174275hg18UCSC Ensembl
Outerchr19:53144775..53174275hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg388802
hg198802
hg188802
hg178802
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2515
Supporting Variants
SamplesNA15510
Known GenesBSPH1, SNAR-C1, SNAR-C2, SNAR-C3, 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)nssv11000
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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