A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7307



Internal ID15205617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38730589..38830942hg38UCSC Ensembl
Outerchr19:39221229..39321582hg19UCSC Ensembl
Outerchr19:43913069..44013422hg18UCSC Ensembl
Outerchr19:43913069..44013422hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38100354
hg19100354
hg18100354
hg17100354
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10995, nssv9335, nssv1450, nssv2221, nssv4358, nssv10186, nssv6784, nssv2222, nssv10187, nssv5741, nssv6785, nssv5740, nssv9855
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18555, NA18517, NA19240, NA19129
Known GenesCAPN12, ECH1, LGALS4, LGALS7, 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)nsv7307
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer