A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152700



Internal ID19197113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:74706974..74712275hg38UCSC Ensembl
Outerchr5:74002799..74008100hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg385302
hg195302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999881
SamplesKWB1
Known GenesHEXB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152700
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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