A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954849



Internal ID17303722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16703106..16798805hg38UCSC Ensembl
Outerchr1:17029601..17125300hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3895700
hg1995700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003136
SamplesBILGI_BIOE
Known GenesESPNP, LOC729574, MST1L
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954849
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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