A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554



Internal ID15201489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:172540120..172573791hg38UCSC Ensembl
Outerchr1:172509260..172542931hg19UCSC Ensembl
Outerchr1:170775883..170809554hg18UCSC Ensembl
Outerchr1:169240917..169274588hg17UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg385599
hg195599
hg185599
hg175599
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4815
SamplesNA19129
Known GenesSUCO
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)nsv3554
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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