A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952186



Internal ID17301060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:56224417..56245416hg38UCSC Ensembl
Outerchr12:56618201..56639200hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3821000
hg1921000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999735
SamplesBILGI_BIOE
Known GenesANKRD52, NABP2, SLC39A5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952186
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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