A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3050330



Internal ID21182379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74827912..74827912hg38UCSC Ensembl
chr7:74243021..74243021hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38591
hg19591
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14034610
SamplesNA12878
Known GenesGTF2IRD2
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)nsv3050330
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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