A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128260



Internal ID19283998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73649081..73649148hg38UCSC Ensembl
Outerchr6:74358804..74358871hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958526
SamplesKWS1
Known GenesSLC17A5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128260
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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