A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7970



Internal ID15535894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:71305860..71350757hg38UCSC Ensembl
Outerchr4:72171577..72216474hg19UCSC Ensembl
Outerchr4:72390441..72435338hg18UCSC Ensembl
Outerchr4:72536612..72581509hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3844898
hg1944898
hg1844898
hg1744898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4382
Supporting Variants
SamplesNA12156
Known GenesSLC4A4
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)nssv7970
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