A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7597



Internal ID15552622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:125457337..125481527hg38UCSC Ensembl
Outerchr10:127145906..127170096hg19UCSC Ensembl
Outerchr10:127135896..127160086hg18UCSC Ensembl
Outerchr10:127135896..127160086hg17UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3812500
hg1912500
hg1812500
hg1712500
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9809
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)nsv7597
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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