A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115738



Internal ID19276188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:36552594..36559794hg38UCSC Ensembl
Outerchr7:36592200..36599400hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg387201
hg197201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977545
SamplesKWS2
Known GenesAOAH
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115738
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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