A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15191853



Internal ID21330709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7101128..7101128hg38UCSC Ensembl
chr12:7253724..7253724hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3929012
Supporting Variants
SamplesHG002
Known GenesC1RL
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15191853
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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