A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5172



Internal ID15549955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1049994..1090838hg38UCSC Ensembl
Outerchr6:1050229..1091073hg19UCSC Ensembl
Outerchr6:995229..1036073hg18UCSC Ensembl
Outerchr6:995229..1036073hg17UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3840845
hg1940845
hg1840845
hg1740845
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6047
SamplesNA12156
Known GenesLOC285768
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)nsv5172
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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