A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512000



Internal ID15504739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:152320374..152326443hg38UCSC Ensembl
Outerchr7:152017459..152023528hg19UCSC Ensembl
Outerchr7:151648392..151654461hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg386070
hg196070
hg186070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624546
Samples1
Known GenesKMT2C
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512000
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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