A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv643



Internal ID15204652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:24376417..24406786hg38UCSC Ensembl
Outerchr12:24529351..24559720hg19UCSC Ensembl
Outerchr12:24420618..24450987hg18UCSC Ensembl
Outerchr12:24420618..24450987hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg388911
hg198911
hg188911
hg178911
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5412
SamplesNA19129
Known GenesSOX5
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)nsv643
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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