A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10380



Internal ID15195732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184252606..184285216hg38UCSC Ensembl
Outerchr3:183970394..184003004hg19UCSC Ensembl
Outerchr3:185453088..185485698hg18UCSC Ensembl
Outerchr3:185453096..185485706hg17UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg386888
hg196888
hg186888
hg176888
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4146
Supporting Variants
SamplesNA18956
Known GenesCAMK2N2, ECE2
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)nssv10380
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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