A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5191



Internal ID15549976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:7606228..7639939hg38UCSC Ensembl
Outerchr6:7606461..7640172hg19UCSC Ensembl
Outerchr6:7551460..7585171hg18UCSC Ensembl
Outerchr6:7551460..7585171hg17UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg386312
hg196312
hg186312
hg176312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2718
SamplesNA18555
Known GenesSNRNP48
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)nsv5191
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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