A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952174



Internal ID16954361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49018918..49054617hg38UCSC Ensembl
Outerchr12:49412701..49448400hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3835700
hg1935700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999724
SamplesBILGI_BIOE
Known GenesKMT2D
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952174
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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