A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126335



Internal ID18916643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132313014..132314214hg38UCSC Ensembl
Outerchr12:132889600..132890800hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv912n106
Supporting Variantsnssv3984575
SamplesKWS1
Known GenesGALNT9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126335
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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