A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1998



Internal ID15546561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18351737..18388051hg38UCSC Ensembl
Outerchr17:18255051..18291365hg19UCSC Ensembl
Outerchr17:18195776..18232090hg18UCSC Ensembl
Outerchr17:18195776..18232090hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg388896
hg198896
hg188896
hg178896
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6704, nssv10969, nssv5643, nssv1353, nssv9539
SamplesNA18507, NA12156, NA15510, NA19240, NA19129
Known GenesEVPLL, SHMT1
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)nsv1998
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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