A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7030



Internal ID15190148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:128133486..128163286hg38UCSC Ensembl
Outerchr3:127852329..127882129hg19UCSC Ensembl
Outerchr3:129335019..129364819hg18UCSC Ensembl
Outerchr3:129335027..129364827hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg387907
hg197907
hg187907
hg177907
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3992
Supporting Variants
SamplesNA12156
Known GenesEEFSEC
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)nssv7030
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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