A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124944



Internal ID19273129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:131327460..131344260hg38UCSC Ensembl
Outerchr6:131648600..131665400hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3816801
hg1916801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977750
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124944
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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