A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3819



Internal ID15548466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52463173..52495196hg38UCSC Ensembl
Outerchr3:52497189..52529212hg19UCSC Ensembl
Outerchr3:52472229..52504252hg18UCSC Ensembl
Outerchr3:52472229..52504252hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg387417
hg197417
hg187417
hg177417
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7009
SamplesNA12156
Known GenesNISCH
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)nsv3819
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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