A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623798



Internal ID15475685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:154966788..155142291hg38UCSC Ensembl
Outerchr1:154939264..155114767hg19UCSC Ensembl
Outerchr1:153205888..153381391hg18UCSC Ensembl
Outerchr1:151752337..151927840hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg387120
hg197120
hg187120
hg177120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509502
Supporting Variants
SamplesNA18994
Known GenesADAM15, CKS1B, DCST1, DCST2, DPM3, EFNA1, EFNA3, EFNA4, FLAD1, LENEP, LOC100505666, MIR4258, SHC1, SLC50A1, ZBTB7B
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)nssv623798
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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