A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6127



Internal ID15537736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:53601645..53634508hg38UCSC Ensembl
Outerchr7:53669338..53702201hg19UCSC Ensembl
Outerchr7:53636832..53669695hg18UCSC Ensembl
Outerchr7:53443547..53476410hg17UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg386576
hg196576
hg186576
hg176576
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5749
Supporting Variants
SamplesNA12156
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)nssv6127
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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