A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4983



Internal ID15544049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56666132..56711559hg38UCSC Ensembl
Outerchr7:56733825..56779252hg19UCSC Ensembl
Outerchr7:56701319..56746746hg18UCSC Ensembl
Outerchr7:56508034..56553461hg17UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3845428
hg1945428
hg1845428
hg1745428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5759
Supporting Variants
SamplesNA19129
Known Genes
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)nssv4983
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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