A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7007



Internal ID15536857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47372642..47404507hg38UCSC Ensembl
Outerchr3:47414132..47445997hg19UCSC Ensembl
Outerchr3:47389136..47421001hg18UCSC Ensembl
Outerchr3:47389136..47421001hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg387572
hg197572
hg187572
hg177572
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3803
Supporting Variants
SamplesNA12156
Known GenesPTPN23
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)nssv7007
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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