A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6012



Internal ID15191166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:95204509..95217623hg38UCSC Ensembl
Outerchr5:94540213..94553327hg19UCSC Ensembl
Outerchr5:94565969..94579083hg18UCSC Ensembl
Outerchr5:94565969..94579083hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3816551
hg1916551
hg1816551
hg1716551
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4922
Supporting Variants
SamplesNA12156
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)nssv6012
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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