A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4454



Internal ID15202479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212310971..212342250hg38UCSC Ensembl
Outerchr1:212484313..212515592hg19UCSC Ensembl
Outerchr1:210550936..210582215hg18UCSC Ensembl
Outerchr1:208872708..208903987hg17UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg388155
hg198155
hg188155
hg178155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6144
SamplesNA12156
Known GenesPPP2R5A
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)nsv4454
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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