A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065



Internal ID15545628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:61181859..61209011hg38UCSC Ensembl
Outerchr1:61647531..61674683hg19UCSC Ensembl
Outerchr1:61420119..61447271hg18UCSC Ensembl
Outerchr1:61359552..61386704hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3812134
hg1912134
hg1812134
hg1712134
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5607
SamplesNA19129
Known GenesNFIA
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)nsv1065
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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