A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2507



Internal ID15200384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45895584..45930026hg38UCSC Ensembl
Outerchr19:46398842..46433284hg19UCSC Ensembl
Outerchr19:51090682..51125124hg18UCSC Ensembl
Outerchr19:51090682..51125124hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg385307
hg195307
hg185307
hg175307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4364
SamplesNA12878
Known GenesMYPOP, NANOS2
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)nsv2507
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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