A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624868



Internal ID15501718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95946519..95949174hg38UCSC Ensembl
Outerchr12:96340297..96342952hg19UCSC Ensembl
Outerchr12:94864428..94867083hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382656
hg192656
hg182656
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512290
Supporting Variants
Samples1
Known GenesAMDHD1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv624868
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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