A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4346



Internal ID15549046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:55722684..55764944hg38UCSC Ensembl
Outerchr4:56588851..56631110hg19UCSC Ensembl
Outerchr4:56283608..56325867hg18UCSC Ensembl
Outerchr4:56429779..56472038hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg386222
hg196222
hg186222
hg176222
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7957, nssv389, nssv3257, nssv2467
SamplesNA12156, NA12878, NA18555, NA19240
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)nsv4346
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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