A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7192



Internal ID15552177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247127829..247207027hg38UCSC Ensembl
Outerchr1:247291131..247370329hg19UCSC Ensembl
Outerchr1:245357754..245436952hg18UCSC Ensembl
Outerchr1:243617172..243696370hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3879199
hg1979199
hg1879199
hg1779199
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9427
SamplesNA18517
Known GenesMIR3916, ZNF124
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)nsv7192
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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