A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6441



Internal ID15204665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143713480..143746167hg38UCSC Ensembl
Outerchr8:144795650..144828337hg19UCSC Ensembl
Outerchr8:144867638..144900325hg18UCSC Ensembl
Outerchr8:144867638..144900325hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg387342
hg197342
hg187342
hg177342
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1775
SamplesNA18555
Known GenesFAM83H, FAM83H-AS1, MAPK15, MIR4664
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)nsv6441
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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