A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126747



Internal ID18902581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:28510223..28621923hg38UCSC Ensembl
Outerchr6:28478000..28589700hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38111701
hg19111701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3296n106
Supporting Variantsnssv3985016
SamplesKWS1
Known GenesGPX5, GPX6, SCAND3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126747
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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