A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115742



Internal ID19261021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:44027401..44032301hg38UCSC Ensembl
Outerchr7:44067000..44071900hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg384901
hg194901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977549
SamplesKWS2
Known GenesRASA4CP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115742
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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