A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1964



Internal ID15199841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8140093..8175220hg38UCSC Ensembl
Outerchr17:8043411..8078538hg19UCSC Ensembl
Outerchr17:7984136..8019263hg18UCSC Ensembl
Outerchr17:7984136..8019263hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg384601
hg194601
hg184601
hg174601
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4248
SamplesNA12878
Known GenesMIR6883, PER1, TMEM107, VAMP2
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)nsv1964
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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