A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3974



Internal ID15538701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:23274795..23282577hg38UCSC Ensembl
Outerchr1:23601288..23609070hg19UCSC Ensembl
Outerchr1:23473875..23481657hg18UCSC Ensembl
Outerchr1:23346594..23354376hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg387678
hg197678
hg187678
hg177678
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6631
Supporting Variants
SamplesNA12878
Known Genes
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)nssv3974
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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