A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3370



Internal ID15191412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:95204478..95219722hg38UCSC Ensembl
Outerchr5:94540182..94555426hg19UCSC Ensembl
Outerchr5:94565938..94581182hg18UCSC Ensembl
Outerchr5:94565938..94581182hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3816524
hg1916524
hg1816524
hg1716524
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4922
Supporting Variants
SamplesNA12878
Known GenesMCTP1
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)nssv3370
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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