A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1155439



Internal ID22085944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38727277..38747742hg38UCSC Ensembl
Outerchr2:38721006..38750229hg38UCSC Ensembl
Innerchr2:38954419..38974884hg19UCSC Ensembl
Outerchr2:38948148..38977371hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3829224
hg1929224
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv167n97
Supporting Variantsnssv4011201
Samples
Known GenesGALM, SRSF7
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1155439
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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