A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1448



Internal ID15197572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:34239307..34258050hg38UCSC Ensembl
Outerchr19:34730212..34748955hg19UCSC Ensembl
Outerchr19:39422052..39440795hg18UCSC Ensembl
Outerchr19:39422052..39440795hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg386573
hg196573
hg186573
hg176573
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2468
Supporting Variants
SamplesNA19240
Known GenesKIAA0355
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)nssv1448
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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