A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128962



Internal ID19247861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:144324207..144359507hg38UCSC Ensembl
Outerchr7:144021300..144056600hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3835301
hg1935301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961633
SamplesKWS1
Known GenesARHGEF5, RNU6-57P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128962
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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