A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124941



Internal ID18926895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:57931022..57938922hg38UCSC Ensembl
Outerchr6:58257300..58265200hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg387901
hg197901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977747
SamplesKWS2
Known GenesGUSBP4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124941
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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