A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6231



Internal ID15204434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:64626036..64671066hg38UCSC Ensembl
Outerchr8:65538593..65583623hg19UCSC Ensembl
Outerchr8:65701147..65746177hg18UCSC Ensembl
Outerchr8:65701147..65746177hg17UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3845031
hg1945031
hg1845031
hg1745031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8505
SamplesNA12156
Known GenesCYP7B1
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)nsv6231
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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