A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1704



Internal ID15546267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:836423..867931hg38UCSC Ensembl
Outerchr16:886423..917931hg19UCSC Ensembl
Outerchr16:826424..857932hg18UCSC Ensembl
Outerchr16:826424..857932hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg389831
hg199831
hg189831
hg179831
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6652, nssv2126, nssv5579, nssv4184, nssv9961, nssv1286
SamplesNA18507, NA12156, NA12878, NA18555, NA19240, NA19129
Known GenesLMF1
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)nsv1704
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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