A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258456



Internal ID22216388
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222578
Supporting Variants
SamplesHG00733
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)nssv14258456
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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