A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5993



Internal ID15204172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:146273537..146318884hg38UCSC Ensembl
Outerchr7:145970629..146015976hg19UCSC Ensembl
Outerchr7:145601562..145646909hg18UCSC Ensembl
Outerchr7:145408277..145453624hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3845348
hg1945348
hg1845348
hg1745348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6179
SamplesNA12156
Known GenesCNTNAP2
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)nsv5993
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer