A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3044700



Internal ID21176186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26358105..26358437hg38UCSC Ensembl
chr12:26511038..26511370hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv307n140
Supporting Variantsnssv14020244
SamplesNA12878
Known GenesITPR2
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nsv3044700
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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