A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142502



Internal ID19249142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:134190878..134190946hg38UCSC Ensembl
Outerchr7:133875630..133875698hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988393, nssv3980049
SamplesKWS2, KWS1
Known GenesLRGUK
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142502
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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