A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4340



Internal ID15549040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:53623481..53656414hg38UCSC Ensembl
Outerchr4:54489648..54522581hg19UCSC Ensembl
Outerchr4:54184405..54217338hg18UCSC Ensembl
Outerchr4:54330576..54363509hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg386506
hg196506
hg186506
hg176506
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7088
SamplesNA12156
Known Genes
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)nsv4340
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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