A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509656



Internal ID15477154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41320187..41384560hg38UCSC Ensembl
Outerchr17:39476439..39540812hg19UCSC Ensembl
Outerchr17:36729965..36794338hg18UCSC Ensembl
Outerchr17:36729965..36794338hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg385175
hg195175
hg185175
hg175175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619713
SamplesNA10860
Known GenesKRT33A, KRT33B, KRT34
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)nsv509656
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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