A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2755



Internal ID15200632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148504612..148573882hg38UCSC Ensembl
Outerchr1:147976829..148012332hg19UCSC Ensembl
Outerchr1:146443453..146478956hg18UCSC Ensembl
Outerchr1:145091741..145127244hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg385946
hg195946
hg185946
hg175946
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11043, nssv7576, nssv3286, nssv2461
SamplesNA15510, NA12156, NA12878, NA18555
Known GenesNBPF10, NBPF8
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)nsv2755
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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