A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3992



Internal ID15548657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:128118055..128163286hg38UCSC Ensembl
Outerchr3:127836898..127882129hg19UCSC Ensembl
Outerchr3:129319588..129364819hg18UCSC Ensembl
Outerchr3:129319596..129364827hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg387907
hg197907
hg187907
hg177907
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9874, nssv325, nssv3195, nssv7030, nssv10359
SamplesNA18507, NA12156, NA12878, NA18956, NA19240
Known GenesEEFSEC, RUVBL1
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)nsv3992
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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