A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2047



Internal ID15199924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:39602374..39637631hg38UCSC Ensembl
Outerchr17:37758627..37793884hg19UCSC Ensembl
Outerchr17:35012153..35047410hg18UCSC Ensembl
Outerchr17:35012153..35047410hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg385736
hg195736
hg185736
hg175736
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1365
SamplesNA19240
Known GenesNEUROD2, PPP1R1B, STARD3
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)nsv2047
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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