A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10556



Internal ID15542242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:66770168..66801796hg38UCSC Ensembl
Outerchr7:66235155..66266783hg19UCSC Ensembl
Outerchr7:65872590..65904218hg18UCSC Ensembl
Outerchr7:65679305..65710933hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg387878
hg197878
hg187878
hg177878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5773
Supporting Variants
SamplesNA18956
Known GenesRABGEF1
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)nssv10556
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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