A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6249



Internal ID15551139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:70693476..70699941hg38UCSC Ensembl
Outerchr8:71605711..71612176hg19UCSC Ensembl
Outerchr8:71768265..71774730hg18UCSC Ensembl
Outerchr8:71768265..71774730hg17UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg386466
hg196466
hg186466
hg176466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1752
SamplesNA18555
Known GenesXKR9
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)nsv6249
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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