A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5848



Internal ID15550698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:93761876..93817391hg38UCSC Ensembl
Outerchr7:93391188..93446703hg19UCSC Ensembl
Outerchr7:93229124..93284639hg18UCSC Ensembl
Outerchr7:93035839..93091354hg17UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3855516
hg1955516
hg1855516
hg1755516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2673, nssv6150, nssv655, nssv10566, nssv9909, nssv3554, nssv5004
SamplesNA18507, NA12156, NA12878, NA18956, NA18555, NA19240, NA19129
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)nsv5848
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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