A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7033



Internal ID15536831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130030822..130110644hg38UCSC Ensembl
Outerchr3:129749665..129829487hg19UCSC Ensembl
Outerchr3:131232355..131312177hg18UCSC Ensembl
Outerchr3:131232363..131312185hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3879823
hg1979823
hg1879823
hg1779823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4001
Supporting Variants
SamplesNA12156
Known GenesALG1L2, FAM86HP
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)nssv7033
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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