A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2093



Internal ID15546656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:53749368..53786281hg38UCSC Ensembl
Outerchr17:51826729..51863642hg19UCSC Ensembl
Outerchr17:49181728..49218641hg18UCSC Ensembl
Outerchr17:49181728..49218641hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3836914
hg1936914
hg1836914
hg1736914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4276, nssv6726
SamplesNA12156, NA12878
Known GenesMIR548AJ2
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)nsv2093
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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