A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116998



Internal ID19250151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:75683859..75683934hg38UCSC Ensembl
Outerchr7:75313177..75313252hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3596n106
Supporting Variantsnssv3956606
SamplesKWS1
Known GenesHIP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116998
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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