A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7130



Internal ID15536734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:166735723..166774927hg38UCSC Ensembl
Outerchr4:167656874..167696078hg19UCSC Ensembl
Outerchr4:167893449..167932653hg18UCSC Ensembl
Outerchr4:168031604..168070808hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3839205
hg1939205
hg1839205
hg1739205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4593
Supporting Variants
SamplesNA12156
Known GenesSPOCK3
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)nssv7130
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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