A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3695



Internal ID15191737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207516277..207563378hg38UCSC Ensembl
Outerchr1:207689622..207736723hg19UCSC Ensembl
Outerchr1:205756245..205803346hg18UCSC Ensembl
Outerchr1:204078017..204125118hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3847102
hg1947102
hg1847102
hg1747102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4232
Supporting Variants
SamplesNA12878
Known GenesCR1
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)nssv3695
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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