A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4043



Internal ID15202027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:198503127..198529478hg38UCSC Ensembl
Outerchr1:198472257..198498608hg19UCSC Ensembl
Outerchr1:196738880..196765231hg18UCSC Ensembl
Outerchr1:195203914..195230265hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3811332
hg1911332
hg1811332
hg1711332
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2664, nssv9386, nssv3628, nssv9656, nssv11145, nssv10430
SamplesNA18507, NA12878, NA18956, NA15510, NA18555, NA18517
Known GenesATP6V1G3
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)nsv4043
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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