A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072917



Internal ID19323252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:7260204..7260255hg38UCSC Ensembl
chr2:7400335..7400386hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767850
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072917
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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