A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv949949



Internal ID17298823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:131328342..131343441hg38UCSC Ensembl
Outerchr7:131013101..131028200hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg3815100
hg1915100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998590
SamplesBILGI_BIOE
Known GenesMKLN1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv949949
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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