A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4904



Internal ID15196265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:204587657..204620074hg38UCSC Ensembl
Outerchr1:204556785..204589202hg19UCSC Ensembl
Outerchr1:202823408..202855825hg18UCSC Ensembl
Outerchr1:201288442..201320859hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386859
hg196859
hg186859
hg176859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4154
Supporting Variants
SamplesNA19129
Known GenesLRRN2
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)nssv4904
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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