A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2988



Internal ID15200866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155182130..155219701hg38UCSC Ensembl
Outerchr1:155154606..155189492hg19UCSC Ensembl
Outerchr1:153421230..153456116hg18UCSC Ensembl
Outerchr1:151967679..152002565hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3820016
hg1920016
hg1820016
hg1720016
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1582, nssv4704
SamplesNA19240, NA19129
Known GenesGBAP1, MIR92B, MTX1, MUC1, THBS3, TRIM46
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)nsv2988
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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