A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5648



Internal ID15550478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:18542757..18576296hg38UCSC Ensembl
Outerchr7:18582380..18615919hg19UCSC Ensembl
Outerchr7:18548905..18582444hg18UCSC Ensembl
Outerchr7:18355620..18389159hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg386184
hg196184
hg186184
hg176184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3506
SamplesNA12878
Known GenesHDAC9
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)nsv5648
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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