A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5247



Internal ID15203351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31957962..32055439hg38UCSC Ensembl
Outerchr6:31925739..32023216hg19UCSC Ensembl
Outerchr6:32033718..32131194hg18UCSC Ensembl
Outerchr6:32033718..32131194hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3897478
hg1997478
hg1897477
hg1797477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4907, nssv3428, nssv11123, nssv9425, nssv11124, nssv2581, nssv3427, nssv541, nssv4908
SamplesNA12878, NA15510, NA18555, NA18517, NA19240, NA19129
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, DXO, NELFE, SKIV2L, 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)nsv5247
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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