A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1757



Internal ID15546320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:19929802..19969007hg38UCSC Ensembl
Outerchr16:19941124..19980329hg19UCSC Ensembl
Outerchr16:19848625..19887830hg18UCSC Ensembl
Outerchr16:19848625..19887830hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3839206
hg1939206
hg1839206
hg1739206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4199
SamplesNA12878
Known Genes
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)nsv1757
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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