A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6794



Internal ID15537069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47942839..47949431hg38UCSC Ensembl
Outerchr19:48446096..48452688hg19UCSC Ensembl
Outerchr19:53137908..53144500hg18UCSC Ensembl
Outerchr19:53137908..53144500hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3821516
hg1921516
hg1821516
hg1721516
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2515
Supporting Variants
SamplesNA12156
Known GenesSNAR-A12, SNAR-A13
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)nssv6794
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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