A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072612



Internal ID18969747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46237375..46238753hg38UCSC Ensembl
chr21:47657289..47658667hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381379
hg191379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771300
SamplesKWP1
Known GenesMCM3AP, MCM3AP-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072612
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer