A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4047



Internal ID15548717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:146650367..146684071hg38UCSC Ensembl
Outerchr3:146368154..146401858hg19UCSC Ensembl
Outerchr3:147850844..147884548hg18UCSC Ensembl
Outerchr3:147850852..147884556hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3833705
hg1933705
hg1833705
hg1733705
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10366, nssv4688, nssv3205
SamplesNA12878, NA18956, NA19129
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)nsv4047
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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