A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3990



Internal ID15548655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:127731776..127764490hg38UCSC Ensembl
Outerchr3:127450619..127483333hg19UCSC Ensembl
Outerchr3:128933309..128966023hg18UCSC Ensembl
Outerchr3:128933317..128966031hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg387314
hg197314
hg187314
hg177314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2412
SamplesNA18555
Known GenesMGLL
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)nsv3990
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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