A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3175



Internal ID15537903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:73524855..73557048hg38UCSC Ensembl
Outerchr3:73574006..73606199hg19UCSC Ensembl
Outerchr3:73656696..73688889hg18UCSC Ensembl
Outerchr3:73656696..73688889hg17UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg387553
hg197553
hg187553
hg177553
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3878
Supporting Variants
SamplesNA12878
Known GenesPDZRN3
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)nssv3175
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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