A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137740



Internal ID19269254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:20645813..20645881hg38UCSC Ensembl
Outerchr1:20972306..20972374hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985271, nssv3967978
SamplesKWS2, KWS1
Known GenesPINK1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137740
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer