A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132636



Internal ID19253847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:37611797..37617497hg38UCSC Ensembl
Outerchr7:37651400..37657100hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg385701
hg195701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987423
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132636
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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