A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624546



Internal ID15501396
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 StatusS
Merged Variantsnsv512000
Supporting Variants
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)nssv624546
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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