A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv306



Internal ID15198312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:68048773..68083360hg38UCSC Ensembl
Outerchr3:68097923..68132510hg19UCSC Ensembl
Outerchr3:68180613..68215200hg18UCSC Ensembl
Outerchr3:68180613..68215200hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg386396
hg196396
hg186396
hg176396
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3861
Supporting Variants
SamplesNA19240
Known GenesFAM19A1
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)nssv306
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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