A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6798



Internal ID15537065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50138870..50147060hg38UCSC Ensembl
Outerchr19:50642127..50650317hg19UCSC Ensembl
Outerchr19:55333939..55342129hg18UCSC Ensembl
Outerchr19:55333939..55342129hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3819974
hg1919974
hg1819974
hg1719974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2526
Supporting Variants
SamplesNA12156
Known GenesSNAR-B1, SNAR-B2, SNAR-D
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)nssv6798
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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