A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111346



Internal ID18940505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142751496..142768000hg38UCSC Ensembl
Outerchr7:142459347..142480828hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3816505
hg1921482
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963439
SamplesKWS1
Known GenesPRSS1, PRSS2, PRSS3P2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111346
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