A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222578



Internal ID22366613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:82448082..84432121hg38UCSC Ensembl
Outerchr15:83116763..84984473hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg381984040
hg191867711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258455, nssv14258456
SamplesHG00512, HG00733
Known GenesADAMTSL3, AP3B2, BNC1, BTBD1, C15orf40, CPEB1, CSPG4P8, EFTUD1P1, FAM103A1, FSD2, GOLGA6L4, HDGFRP3, HOMER2, LOC100505679, LOC283692, LOC283693, LOC338963, LOC388152, LOC440300, LOC642423, LOC727751, LOC80154, MIR4515, RPS17, RPS17L, SCARNA15, SH3GL3, TM6SF1, WHAMM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222578
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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