A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6395



Internal ID15551300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:129734705..129773153hg38UCSC Ensembl
Outerchr8:130746951..130785399hg19UCSC Ensembl
Outerchr8:130816133..130854581hg18UCSC Ensembl
Outerchr8:130816133..130854581hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg388778
hg198778
hg188778
hg178778
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11197, nssv774, nssv5131, nssv6254, nssv1770
SamplesNA12156, NA15510, NA18555, NA19240, NA19129
Known GenesGSDMC
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)nsv6395
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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