A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5946



Internal ID15543427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:17495660..17536686hg38UCSC Ensembl
Outerchr3:17537152..17578178hg19UCSC Ensembl
Outerchr3:17512156..17553182hg18UCSC Ensembl
Outerchr3:17512156..17553182hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3841027
hg1941027
hg1841027
hg1741027
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3715
Supporting Variants
SamplesNA19129
Known GenesTBC1D5
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)nssv5946
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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