A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3090



Internal ID15194199
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 StatusS
Merged Variantsnsv3748
Supporting Variants
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)nssv3090
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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