A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511997



Internal ID15504736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148375665..148379334hg38UCSC Ensembl
Outerchr7:148072757..148076426hg19UCSC Ensembl
Outerchr7:147703690..147707359hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383670
hg193670
hg183670
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624542
Samples1
Known GenesCNTNAP2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511997
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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