A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3748



Internal ID15201702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:30623227..30626246hg38UCSC Ensembl
Outerchr3:30664719..30667738hg19UCSC Ensembl
Outerchr3:30639723..30642742hg18UCSC Ensembl
Outerchr3:30639723..30642742hg17UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg387333
hg197333
hg187333
hg177333
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3090
SamplesNA18555
Known GenesTGFBR2
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)nsv3748
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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