A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4007



Internal ID15192048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:3596830..3627639hg38UCSC Ensembl
Outerchr12:3705996..3736805hg19UCSC Ensembl
Outerchr12:3576257..3607066hg18UCSC Ensembl
Outerchr12:3576257..3607066hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg388932
hg198932
hg188932
hg178932
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582
Supporting Variants
SamplesNA12878
Known GenesEFCAB4B
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)nssv4007
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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