A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5204



Internal ID15549990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13177182..13203587hg38UCSC Ensembl
Outerchr6:13177414..13203819hg19UCSC Ensembl
Outerchr6:13285391..13311798hg18UCSC Ensembl
Outerchr6:13285391..13311798hg17UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg387144
hg197144
hg187144
hg177144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2570, nssv10487
SamplesNA18956, NA18555
Known GenesPHACTR1
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)nsv5204
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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