A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3963439



Internal ID18877618
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 StatusS
Merged Variantsnsv1111346
Supporting Variants
SamplesKWS1
Known GenesPRSS1, PRSS2, PRSS3P2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3963439
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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