A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5741



Internal ID15196988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38776878..38823872hg38UCSC Ensembl
Outerchr19:39267518..39314512hg19UCSC Ensembl
Outerchr19:43959358..44006352hg18UCSC Ensembl
Outerchr19:43959358..44006352hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3846995
hg1946995
hg1846995
hg1746995
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7307
Supporting Variants
SamplesNA19129
Known GenesECH1, LGALS4, LGALS7B
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)nssv5741
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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