A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4315



Internal ID15539042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:37026350..37044812hg38UCSC Ensembl
Outerchr18:34606313..34624775hg19UCSC Ensembl
Outerchr18:32860311..32878773hg18UCSC Ensembl
Outerchr18:32860311..32878773hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg385596
hg195596
hg185596
hg175596
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2257
Supporting Variants
SamplesNA12878
Known GenesKIAA1328
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv4315
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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