A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077648



Internal ID19323323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:5617244..5617303hg38UCSC Ensembl
Outerchr12:5726410..5726469hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763582
SamplesKWP1
Known GenesANO2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077648
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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