A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152325



Internal ID19200058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41645547..41653348hg38UCSC Ensembl
Outerchr17:39801799..39809600hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg387802
hg197802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996931
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152325
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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