A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6000



Internal ID15204180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148343061..148386782hg38UCSC Ensembl
Outerchr7:148040153..148083874hg19UCSC Ensembl
Outerchr7:147671086..147714807hg18UCSC Ensembl
Outerchr7:147477801..147521522hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3843722
hg1943722
hg1843722
hg1743722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6180
SamplesNA12156
Known GenesCNTNAP2, MIR548T
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)nsv6000
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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