A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2137



Internal ID15546700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:72841475..72884102hg38UCSC Ensembl
Outerchr17:70837614..70880241hg19UCSC Ensembl
Outerchr17:68349209..68391836hg18UCSC Ensembl
Outerchr17:68349209..68391836hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg385706
hg195706
hg185706
hg175706
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1383, nssv5672, nssv4288, nssv5671, nssv2185, nssv10134, nssv10979, nssv9968, nssv7346
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18555, NA19240, NA19129
Known GenesSLC39A11
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)nsv2137
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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