A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129784



Internal ID19278553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:75724251..75742439hg38UCSC Ensembl
Outerchr7:75353569..75371757hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3818189
hg1918189
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3964880
SamplesKWS1
Known GenesHIP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129784
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer