A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952790



Internal ID16954977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6368835..6394034hg38UCSC Ensembl
Outerchr12:6478001..6503200hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3825200
hg1925200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999670
SamplesBILGI_BIOE
Known GenesLTBR, SCNN1A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952790
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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