A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954848



Internal ID17303721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16583506..16702205hg38UCSC Ensembl
Outerchr1:16910001..17028700hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38118700
hg19118700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003135
SamplesBILGI_BIOE
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1P2, NBPF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954848
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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