A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3254



Internal ID15547845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161428092..161443293hg38UCSC Ensembl
Outerchr1:161397882..161412933hg19UCSC Ensembl
Outerchr1:159664506..159679557hg18UCSC Ensembl
Outerchr1:158210955..158226156hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3828739
hg1928739
hg1828739
hg1728739
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7097, nssv10296, nssv4769
SamplesNA12156, 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)nsv3254
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer