A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6014



Internal ID15191164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:184815308..184823537hg38UCSC Ensembl
Outerchr1:184784442..184792671hg19UCSC Ensembl
Outerchr1:183051065..183059294hg18UCSC Ensembl
Outerchr1:181516099..181524328hg17UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg388230
hg198230
hg188230
hg178230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3832
Supporting Variants
SamplesNA12156
Known GenesFAM129A
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)nssv6014
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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