A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2024



Internal ID15546587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30347479..30371415hg38UCSC Ensembl
Outerchr17:28674497..28698433hg19UCSC Ensembl
Outerchr17:25698623..25722559hg18UCSC Ensembl
Outerchr17:25698623..25722559hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3812766
hg1912766
hg1812766
hg1712766
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9545
SamplesNA18507
Known Genes
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)nsv2024
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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