A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078597



Internal ID19319504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103382477..103461078hg38UCSC Ensembl
chr1:103925099..104003700hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3878602
hg1978602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3761964
SamplesKWP1
Known GenesLOC101928436
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078597
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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