A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119232



Internal ID19255178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:103380753..103382053hg38UCSC Ensembl
Outerchr7:103021200..103022500hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959667
SamplesKWS1
Known GenesSLC26A5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119232
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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