A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508936



Internal ID15476434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:15915852..16181025hg38UCSC Ensembl
Outerchr1:16242347..16507520hg19UCSC Ensembl
Outerchr1:16114934..16380107hg18UCSC Ensembl
Outerchr1:15987653..16252826hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg383415
hg193415
hg183415
hg173415
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619774, nssv619775
SamplesNA10860
Known GenesC1orf64, CLCNKA, CLCNKB, EPHA2, FAM131C, HSPB7, SPEN, ZBTB17
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv508936
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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