A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3428



Internal ID15191470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31971479..32038242hg38UCSC Ensembl
Outerchr6:31939256..32006019hg19UCSC Ensembl
Outerchr6:32047235..32113998hg18UCSC Ensembl
Outerchr6:32047235..32113998hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3866764
hg1966764
hg1866764
hg1766764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5247
Supporting Variants
SamplesNA12878
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, DXO, STK19, TNXA, TNXB
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)nssv3428
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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