A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2257



Internal ID15546820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:37026350..37044812hg38UCSC Ensembl
Outerchr18:34606313..34624775hg19UCSC Ensembl
Outerchr18:32860311..32878773hg18UCSC Ensembl
Outerchr18:32860311..32878773hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg385596
hg195596
hg185596
hg175596
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4315
SamplesNA12878
Known GenesKIAA1328
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)nsv2257
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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