A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717



Internal ID15203868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:41950387..41983735hg38UCSC Ensembl
Outerchr7:41989985..42023334hg19UCSC Ensembl
Outerchr7:41956510..41989859hg18UCSC Ensembl
Outerchr7:41763225..41796574hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg386680
hg196680
hg186680
hg176680
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2645
SamplesNA18555
Known GenesGLI3
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)nsv5717
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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