A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143188



Internal ID18925118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:89161544..89161617hg38UCSC Ensembl
Outerchr7:88790858..88790931hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988389, nssv3980365
SamplesKWS1, KWS2
Known GenesZNF804B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143188
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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